FANCA Mutations
Gene FANCA  
PolyMut polymorphism  
Mutation 1501G>A  
Published Name 1501G/A  
Amino acid change G501S  
Exon exon 16  
Type AA substitution  
Comment Msp I 73 allelles tested; G-64.3%, A-35.6% rs2239359  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia lab  
Proper Nomenclature p.Gly1501Ser  
Proper Nomenclature NM_000135.1:c.1501G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 796A>G  
Published Name 796A/G  
Amino acid change T266A  
Exon exon 9  
Type AA substitution  
Comment  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia lab  
Proper Nomenclature p.Thr266Ala  
Proper Nomenclature NM_000135.1:c.796A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 1089T>A  
Published Name 1089T/A  
Amino acid change F363L  
Exon exon 13  
Type AA substitution  
Comment  
Source Savoia A, FA LSDB [1997]  
Proper Nomenclature p.Phe363Leu  
Proper Nomenclature NM_000135.1:c.1089T>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 2151G>T  
Published Name G2195T  
Amino acid change M717I  
Exon exon 23  
Type AA substitution  
Comment Previously known as 2151G/T  
Source Savoia A, FA LSDB [1997]  
Proper Nomenclature p.Met717Ile  
Proper Nomenclature NM_000135.1:c.2151G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 2426G>A  
Published Name 2426G/A  
Amino acid change G809D  
Exon exon 26  
Type AA substitution  
Comment 75 alleles screened; G-43%, A-57.3% eliminates DraIII site and BstNI site rs7195066  
Source Savino et al. Am J Hum Genet 61:1246 (1997) A. Savoia lab  
Proper Nomenclature p.Gly809Asp  
Proper Nomenclature NM_000135.1:c.2426G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 764_766delGAA  
Published Name 764_766del  
Amino acid change R255del  
Exon exon 8  
Type deletion  
Comment arg to lys at position 255; deletion of thr at 256; remainder in frame. Found on a “normal” chromosome in one FA family; one non-FA child carries it.  
Source Levran et al. [1997]  
Proper Nomenclature p.Arg255del  
Proper Nomenclature NM_000135.1:c.764_766delGAA  

Gene FANCA  
PolyMut polymorphism  
Mutation 3859G>A  
Published Name 3859G/A  
Amino acid change V1287I  
Exon exon 39  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Gly1287Ile  
Proper Nomenclature NM_000135.1:c.3859G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS7-12A>G  
Published Name IVS7-12A/G  
Amino acid change  
Exon intron 7  
Type no change  
Comment 81 alleles tested in NY: G-55.4%, A-44.6% rs1800286  
Source Levran et al. [1997]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.710-12A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS18+82T>C  
Published Name IVS18+82T/C  
Amino acid change  
Exon intron 18  
Type no change  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1715+82T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS42+29T>C  
Published Name IVS42+29T/C  
Amino acid change  
Exon intron 42  
Type no change  
Comment 89 alleles tested in NY: C-54%, T-46%  
Source Levran et al. [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.4261+29T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS17+29C>T  
Published Name NM_000135.1:c.1626+29C>T  
Amino acid change  
Exon intron 17  
Type no change  
Comment rs1800334  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1626+29C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS35+62T>C  
Published Name NM_000135.1:c.3513+62T>C  
Amino acid change  
Exon intron 35  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3513+62T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS41+42C>T  
Published Name NM_000135.1:c.4167+42C>T  
Amino acid change  
Exon intron 41  
Type no change  
Comment Possibly a mutation; found in one family, and segregates with the disease.  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.4167+42C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 1290G>A  
Published Name 1290G/A  
Amino acid change A430A  
Exon exon 14  
Type no change  
Comment Levran et al. PNAS (1997) references to Mutation database.  
Source Wijker et al. [1999]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1290G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS13-20A>G  
Published Name NM_000135.1:c.1226-20A>G  
Amino acid change  
Exon intron 13  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1226-20A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 755A>G  
Published Name 755A>G  
Amino acid change D252G  
Exon exon 8  
Type AA substitution  
Comment A complex allele of four point mutations; the other mutations are: 24 C>T, 542C>T and 732G>C. Changed from mutation to polymorphism 8/20/03  
Source Levran et al. [1997]  
Proper Nomenclature p.Asp252Gly  
Proper Nomenclature NM_000135.1:c.755A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS23+8T>C  
Published Name IVS23+8T/C  
Amino acid change  
Exon intron 23  
Type no change  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.2151-8T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS32-42G>A  
Published Name IVS32-42G/A  
Amino acid change  
Exon intron 32  
Type no change  
Comment 30 alleles tested in NY: G- 56.7%, A-43.3%  
Source Levran et al. [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3240-42G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS6+74G>A  
Published Name IVS6+74G/A  
Amino acid change  
Exon intron 6  
Type no change  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.596+74G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 3183C>T  
Published Name NM_000135.1:c.3183C>T  
Amino acid change S1061S  
Exon exon 32  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.3183C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 17T>A  
Published Name 17T/A  
Amino acid change V6D  
Exon exon 1  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Gly6Asp  
Proper Nomenclature NM_000135.1:c.17T>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS25-75A>G  
Published Name NM_000135.1:c.2317-75A>G  
Amino acid change  
Exon intron 25  
Type no change  
Comment The G allele was found in all individuals sequenced so far; the A allele (Nat. Genet. cDNA) is probably a rare variant. (Auerbach)  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.2317-75A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS35+78A>G  
Published Name NM_000135.1:c.3513+78A>G  
Amino acid change  
Exon intron 35  
Type no change  
Comment To this point has always been found with IVS35+62T/C.  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3513+78A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS39-16C>T  
Published Name IVS39-16C/T  
Amino acid change  
Exon intron 39  
Type no change  
Comment C-62.5% T-37.5% out of 72 allelles. rs1061646  
Source Levran et al. [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3934-16C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS20+30insGT  
Published Name NM_000135.1:c.1826+30insGT  
Amino acid change  
Exon intron 20  
Type unknown  
Comment found in a normal sib and both parents;  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1826+30insGT  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS12-49G>C  
Published Name NM_000135.1:c.1084-49G>C  
Amino acid change  
Exon intron 12  
Type no change  
Comment found in a known FANCC family.  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1084-49G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS12-29A>G  
Published Name IVS12-29A/G  
Amino acid change  
Exon intron 12  
Type no change  
Comment  
Source levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.1084-29A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 1143G>T  
Published Name 1143 G/T  
Amino acid change T381T  
Exon exon 13  
Type no change  
Comment found in a known FAC family.  
Source Auerbach lab; December 1996. Also reported by C. Mathew; Tachibana A., 1999  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.1143G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS20+15T>C  
Published Name IVS20+15T/C  
Amino acid change  
Exon intron 20  
Type no change  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1826+15T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation 3654A>G  
Published Name 3654A/G  
Amino acid change P1218P  
Exon exon 37  
Type no change  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3654A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS24+73A>G  
Published Name IVS24+73A/G  
Amino acid change  
Exon intron 24  
Type no change  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.2222+73A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS33+18A>G  
Published Name NM_000135.1:c.3348+18A>G  
Amino acid change  
Exon intron 33  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3348+18A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS41-30A>G  
Published Name IVS41-30A/G  
Amino acid change  
Exon intron 41  
Type no change  
Comment Possibly a mutation; found in one family, and segregates with the disease.  
Source Auerbach lab; December 1996  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS19-29T>C  
Published Name NM_000135.1:c.1777-29T>C  
Amino acid change  
Exon intron 19  
Type no change  
Comment Changed from Mutation to Polymorphism 8/20/03  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1777-29T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation 3982A>G  
Published Name 3982A>G  
Amino acid change T1328A  
Exon exon 40  
Type AA substitution  
Comment Mutation or Polymorphism??  
Source Levran et al. [1997]  
Proper Nomenclature p.Thr1327Ala  
Proper Nomenclature NM_000135.1:c.3982A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS36-67A>C  
Published Name  
Amino acid change  
Exon intron 36  
Type no change  
Comment Also known as IVS36-67A/C  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3627-67A>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS36-64T>C  
Published Name  
Amino acid change  
Exon intron 36  
Type no change  
Comment Also known as IVS36-64T/C  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3627-64T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS38-82G>C  
Published Name  
Amino acid change  
Exon intron 38  
Type no change  
Comment Also known as IVS38-82G/C  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3829-82G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS39+33C>G  
Published Name  
Amino acid change  
Exon intron 39  
Type no change  
Comment Previoulsy known as IVS39+33C/G  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3934+33C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS2-55G>T  
Published Name IVS2-55G/T  
Amino acid change  
Exon intron 2  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.190-55G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 1941G>A  
Published Name 1940G/A  
Amino acid change E647E  
Exon exon 22  
Type no change  
Comment  
Source Levran et al. [2001]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.1941G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS22+42G>T  
Published Name NM_000135.1:c.2014+42G>T  
Amino acid change  
Exon intron 22  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.2014+42G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS17+16C>T  
Published Name NM_000135.1:c.1626+16T>C  
Amino acid change  
Exon intron 17  
Type no change  
Comment  
Source Levrn et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.1626+16T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS34+45G>A  
Published Name NM_000135.1:c.3408+45G>A  
Amino acid change  
Exon intron 34  
Type no change  
Comment rs1800355  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3408+45G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS31-57A>C  
Published Name IVS31-57A/C  
Amino acid change  
Exon intron 31  
Type no change  
Comment rs1800344  
Source Auerbach lab August 7, 1997, Tipping et al., 2001  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3067-57A>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS33+29C>T  
Published Name NM_000135.1:c.3348+29C>T  
Amino acid change  
Exon intron 33  
Type no change  
Comment  
Source Levran et al. [2004] rs1800348  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3348+29C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS25+23C>T  
Published Name NM_000135.1:c.2316+23C>T  
Amino acid change  
Exon intron 25  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.2316+23C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS25+65C>G  
Published Name NM_000135.1:c.2316+65C>G  
Amino acid change  
Exon intron 25  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.2316+65C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 1830A>G  
Published Name NM_000135.1:c.1830A>G  
Amino acid change A610A  
Exon exon 21  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1830A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 807A>T  
Published Name 807A/T  
Amino acid change V269V  
Exon exon 9  
Type no change  
Comment  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.807A>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 883G>C  
Published Name 883G/C  
Amino acid change V295L  
Exon exon 10  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Gly295Leu  
Proper Nomenclature NM_000135.1:c.883G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation 887G>A  
Published Name 887G/A  
Amino acid change R296K  
Exon exon 10  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Arg296Lys  
Proper Nomenclature NM_000135.1:c.887G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 908G>C  
Published Name 908G/C  
Amino acid change S303T  
Exon exon 11  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Ser303Thr  
Proper Nomenclature NM_000135.1:c.908G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation 734G>A  
Published Name 734G/A  
Amino acid change R245K  
Exon exon 8  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Arg245Lys  
Proper Nomenclature NM_000135.1:c.734G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 926G>A  
Published Name 926G/A  
Amino acid change S309N  
Exon exon 11  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Ser309Asn  
Proper Nomenclature NM_000135.1:c.926G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 1417C>T  
Published Name  
Amino acid change L473L  
Exon exon 15  
Type no change  
Comment  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1417C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS4-59A>G  
Published Name  
Amino acid change  
Exon intron 4  
Type no change  
Comment Also known as IVS4-59A/G rs2074963  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.427-59A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS10+42A>G  
Published Name  
Amino acid change  
Exon intron 10  
Type no change  
Comment Also known as IVS10+42A/G  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.893+42A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS13+13G>A  
Published Name  
Amino acid change  
Exon intron 13  
Type no change  
Comment Also known as IVS13-13G/A  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.1225+13G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 1235C>T  
Published Name 1235C/T  
Amino acid change A412V  
Exon exon 14  
Type AA substitution  
Comment  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Ala412Gly  
Proper Nomenclature NM_000135.1:c.1235C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS20+8T>G  
Published Name  
Amino acid change  
Exon intron 20  
Type no change  
Comment Also known as IVS20+8T/G  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1826+8T>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS23+18T>G  
Published Name IVS23+18T/G  
Amino acid change  
Exon intron 23  
Type no change  
Comment  
Source Tipping, FA LSDB [1998]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.2151+18G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 2632G>C  
Published Name 2632G/C  
Amino acid change E878Q  
Exon exon 28  
Type AA substitution  
Comment Assayed does not segregate with disease in family.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Glu878Gln  
Proper Nomenclature NM_000135.1:c.2632G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation 3316G>A  
Published Name  
Amino acid change E1106K  
Exon exon 33  
Type AA substitution  
Comment Also known as 3316G/A  
Source Mathew CG, FA LSDB [1997]  
Proper Nomenclature p.Glu1106Lys  
Proper Nomenclature NM_000135.1:c.3316G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 3807G>C  
Published Name 3807G/C  
Amino acid change L1269L  
Exon exon 38  
Type no change  
Comment  
Source Tachibana A., Human Mutations, 1999  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.3807G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS31-23G>A  
Published Name IVS31-23G/A  
Amino acid change  
Exon intron 31  
Type no change  
Comment  
Source Tipping et al., PNAS, 2001  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.3067-23G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS32+18C>G  
Published Name IVS32+18C/G  
Amino acid change  
Exon intron 32  
Type no change  
Comment  
Source Tipping et al. [1998]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3239+18C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS27-36G>T  
Published Name IVS27-36G/T  
Amino acid change  
Exon intron 27  
Type no change  
Comment  
Source Tipping et al., (1998)  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut polymorphism  
Mutation 3263C>T  
Published Name 3263C>T  
Amino acid change S1088F  
Exon exon 33  
Type AA substitution  
Comment Changed from mutation to polymorphism 12/17/01. Homozygous change found in an Iranian patient. Segregates with the disease in the family, and was not found in 42 Middle Eastern control chromosomes.  
Source Wijker et al. Eur J Hum Genet 6: 1999  
Proper Nomenclature p.Ser1088Phe  
Proper Nomenclature NM_000135.1:c.3263C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS40-83T>C  
Published Name  
Amino acid change  
Exon intron 40  
Type no change  
Comment  
Source Auerbach lab 1997  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut polymorphism  
Mutation 2901C>T  
Published Name 2901C/T  
Amino acid change S967S  
Exon exon 30  
Type no change  
Comment  
Source Tachibana A., Human Mutations, 1999  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.2901C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 1927C>G  
Published Name 1927C/G  
Amino acid change P643A  
Exon exon 22  
Type AA substitution  
Comment  
Source Levran et al., (1997), Morgan et al., 1999  
Proper Nomenclature p.Pro643Ala  
Proper Nomenclature NM_000135.1:c.1927C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS21-62A>G  
Published Name NM_000135.1:c.1901-62A>G  
Amino acid change  
Exon intron 21  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.1901-62A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 3188G>T  
Published Name NM_000135.1:c.3188G>T  
Amino acid change W1063L  
Exon exon 32  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Try1063Leu  
Proper Nomenclature NM_000135.1:c.3188G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS31-4T>C  
Published Name IVS31-4T/C  
Amino acid change  
Exon intron 31  
Type no change  
Comment  
Source Tipping et al., PNAS, 2001  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3067-4T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS31-97T>C  
Published Name IVS31-97T/C  
Amino acid change  
Exon intron 31  
Type no change  
Comment  
Source Tipping et al., PNAS, 2001  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3067-97T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS31-114C>A  
Published Name IVS31-114C/A  
Amino acid change  
Exon intron 31  
Type no change  
Comment  
Source Tipping et al., PNAS, 2001  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.3067-114C>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS31-259G>T  
Published Name IVS31-259G/T  
Amino acid change  
Exon intron 31  
Type no change  
Comment  
Source Tipping et al., PNAS, 2001  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3067-259G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS24-5G>A  
Published Name IVS24-5G/A  
Amino acid change  
Exon intron 24  
Type no change  
Comment Tunisian  
Source Bouchlaka et al., J. of Human Genetics, 2003  
Proper Nomenclature  
Proper Nomenclature  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS24-6C>G  
Published Name IVS24-6C/G  
Amino acid change  
Exon intron 24  
Type no change  
Comment  
Source Bouchlaka et al., J. of Human Genetics, 2003  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.2223-6C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS3+84T>C  
Published Name NM_000135.1:c.283+84T>C  
Amino acid change  
Exon intron 3  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.283+84T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS4-25A>G  
Published Name NM_000135.1:c.427-25A>G  
Amino acid change  
Exon intron 4  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.427-25A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS5-58C>A  
Published Name NM_000135.1:c.523-58C>A  
Amino acid change  
Exon intron 5  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.523-58C>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS5-59A>G  
Published Name IVS5-59A>G  
Amino acid change  
Exon intron 5  
Type no change  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.523-59A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS5-67C>T  
Published Name MN_000135.1:c.523-67C>T  
Amino acid change  
Exon intron 5  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature MN_000135.1:c.523-67C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS5-85T>G  
Published Name MN_000135.1:c.523-85T>G  
Amino acid change  
Exon intron 5  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature MN_000135.1:c.523-85T>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS5-99C>T  
Published Name MN_000135.1:c.523-99C>T  
Amino acid change  
Exon intron 5  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature MN_000135.1:c.523-99C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS10-8A>G  
Published Name IVS10-8A/G  
Amino acid change  
Exon intron 10  
Type unknown  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.894-8A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS14-75C>A  
Published Name IVS14-75C/A  
Amino acid change  
Exon intron 14  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.1360-75C>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS19-45G>T  
Published Name NM_000135.1:c.1777-45G>T  
Amino acid change  
Exon intron 19  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.1777-45G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 2216C>T  
Published Name 2216C/T  
Amino acid change P739L  
Exon exon 24  
Type AA substitution  
Comment  
Source Levran et al. [1997]  
Proper Nomenclature p.Pro739Leu  
Proper Nomenclature NM_000135.1:c.2216C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS25-59C>T  
Published Name IVS25-59C/T  
Amino acid change  
Exon intron 25  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.2317-59C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS27-19G>C  
Published Name NM_000135.1:c.2602-19G>C  
Amino acid change  
Exon intron 27  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.2602-19G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS27-46T>A  
Published Name NM_000135.1:c.2602-46T>A  
Amino acid change  
Exon intron 27  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.2602-46T>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS28-7C>T  
Published Name NM_000135.1:c.2779-7T>C  
Amino acid change  
Exon intron 28  
Type unknown  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.2779-7T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS31+55A>G  
Published Name IVS31+55A/G  
Amino acid change  
Exon intron 31  
Type no change  
Comment  
Source Levran et al. [2004] rs3743860  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3066+55A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS32-35G>A  
Published Name NM_000135.1:c.3240-35G>A  
Amino acid change  
Exon intron 32  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3240-35G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS35+57G>A  
Published Name NM_000135.1:c.3513+57G>A  
Amino acid change  
Exon intron 35  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3513+57G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS35-67T>C  
Published Name NM_000135.1:c.3514-67T>C  
Amino acid change  
Exon intron 35  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3514-67T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS37+37G>A  
Published Name NM_000135.1:c.3765+37G>A  
Amino acid change  
Exon intron 37  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3765+37G>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS37+61A>G  
Published Name NM_000135.1:c.3765-61A>G  
Amino acid change  
Exon intron 37  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3765-61A>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS38-65C>A  
Published Name NM_000135.1:c.3829-65C>A  
Amino acid change  
Exon intron 38  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3829-65C>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS38-87G>C  
Published Name NM_000135.1:c.3829-87G>C  
Amino acid change  
Exon intron 38  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3829-87G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS39+58T>A  
Published Name NM_000135.1:c.3934+58T>A  
Amino acid change  
Exon intron 39  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3934+58T>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS39+62T>G  
Published Name NM_000135.1:c.3934+62T>G  
Amino acid change  
Exon intron 39  
Type no change  
Comment  
Source Levran et al. [2004] rs1061647  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.3934+62T>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS39+2dupT  
Published Name NM_000135.1:c.3934+2dupT  
Amino acid change  
Exon intron 39  
Type unknown  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.3934+2dupT  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS39-102C>G  
Published Name NM_000135.1:c.3935-102C>G  
Amino acid change  
Exon intron 39  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3935-102C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS40-97T>C  
Published Name NM_000135.1:c.4011-97T>C  
Amino acid change  
Exon intron 40  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature no change  
Proper Nomenclature NM_000135.1:c.4011-97T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation 4299C>T  
Published Name NM_000135.1:c.4299C>T  
Amino acid change S1433S  
Exon exon 43  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.4299C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 971T>G  
Published Name NM_000135.1:c.917T>G  
Amino acid change L324R  
Exon exon 11  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Leu324Arg  
Proper Nomenclature NM_000135.1:c.917T>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 3644C>A  
Published Name NM_000135.1:c.3644C>A  
Amino acid change A1215D  
Exon exon 37  
Type AA substitution  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature p.Ala1215Asp  
Proper Nomenclature NM_000135.1:c.3644C>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS3+84T>C  
Published Name NM_000135.1:c.283+84T>C  
Amino acid change  
Exon intron 3  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.283+84T>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS5-2A>C  
Published Name MN_000135.1:c.523-2A>C  
Amino acid change  
Exon intron 5  
Type unknown  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature unknown  
Proper Nomenclature MN_000135.1:c.523-2A>C  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS20+12C>T  
Published Name  
Amino acid change  
Exon intron 20  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.1826+12C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS26-70C>G  
Published Name NM_000135.1:c.2505-70C>G  
Amino acid change  
Exon intron 26  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.2505-70C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS28+55G>T  
Published Name NM_000135.1:c.2778+55G>T  
Amino acid change  
Exon intron 28  
Type no change  
Comment  
Source Levran et al. [2004]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.2778+55G>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS35+71T>A  
Published Name  
Amino acid change  
Exon intron 35  
Type no change  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature  
Proper Nomenclature NM_000135.1:c.3513+71T>A  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS38-16C>T  
Published Name  
Amino acid change  
Exon intron 38  
Type no change  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.3829C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation IVS40-4C>A  
Published Name  
Amino acid change  
Exon intron 40  
Type no change  
Comment  
Source Rischewski et al. [2001]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.4011-4C>A  

Gene FANCA  
PolyMut polymorphism  
Mutation 4152G>C  
Published Name  
Amino acid change  
Exon exon 41  
Type no change  
Comment  
Source Morgan et al. [1999]  
Proper Nomenclature No change  
Proper Nomenclature NM_000135.1:c.4152G>C  

Gene FANCA  
PolyMut polymorphism  
Mutation 3427C>G  
Published Name 3427C>G  
Amino acid change L1143V  
Exon exon 35  
Type AA substitution  
Comment  
Source Seal et al. [2003]  
Proper Nomenclature p.Leu1143Val  
Proper Nomenclature c.3427C>G  

Gene FANCA  
PolyMut polymorphism  
Mutation 3430C>T  
Published Name 3430C>T  
Amino acid change R1144W  
Exon exon 35  
Type AA substitution  
Comment  
Source Seal et al. [2003]  
Proper Nomenclature p.Arg1144Trp  
Proper Nomenclature c.3430C>T  

Gene FANCA  
PolyMut polymorphism  
Mutation 4186A>G  
Published Name 4186A>G  
Amino acid change I1396V  
Exon exon 42  
Type AA substitution  
Comment  
Source Seal et al. [2003]  
Proper Nomenclature p.Ile1396Val  
Proper Nomenclature c.4186A>G