FANCG Mutations
GENE FANCG  
PolyMut mutation  
Mutation 65G>C  
Published Name 65G>C  
Amino Acid Change R22P  
Exon exon 1  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Arg22Pro  
Proper Nomenclature cDNA c.65G>C  

GENE FANCG  
PolyMut mutation  
Mutation 908T>C  
Published Name 908T>C  
Amino Acid Change L303P  
Exon exon 7  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Leu303Pro  
Proper Nomenclature cDNA c.908T>C  

GENE FANCG  
PolyMut mutation  
Mutation 1562G>A  
Published Name 1562G>A  
Amino Acid Change G521E  
Exon exon 12  
Type AA substitution  
Comment  
Source Auerbach et al. [2003]  
Proper Nomenclature p.Gly521Glu  
Proper Nomenclature cDNA c.1526G>A  

GENE FANCG  
PolyMut mutation  
Mutation 156dupG  
Published Name 156_157insG  
Amino Acid Change  
Exon exon 2  
Type frameshift  
Comment  
Source  
Proper Nomenclature Frameshift  
Proper Nomenclature cDNA c.156dupG  

GENE FANCG  
PolyMut mutation  
Mutation 219_220insT  
Published Name 219_220insT  
Amino Acid Change  
Exon exon 3  
Type frameshift  
Comment  
Source Auerbach et al. [2003]  
Proper Nomenclature  
Proper Nomenclature cDNA c.219_220insT  

GENE FANCG  
PolyMut mutation  
Mutation [1182T>C;1183_1192del10]  
Published Name 1184-1194del  
Amino Acid Change  
Exon exon 10  
Type frameshift  
Comment  
Source de Winter JP et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet. 1998 Nov;20(3): 281-3  
Proper Nomenclature  
Proper Nomenclature cDNA [c.1182T>C + c.1183_1192del10]  

GENE FANCG  
PolyMut mutation  
Mutation [582A>C;583_584delTT]  
Published Name [582A>C;583_584delTT]  
Amino Acid Change  
Exon exon 5  
Type frameshift  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA [c.582A>C + c.583_584delTT]  

GENE FANCG  
PolyMut mutation  
Mutation 1008dupA  
Published Name 1008_1009insA  
Amino Acid Change  
Exon exon 8  
Type frameshift  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA c.1008dupA  

GENE FANCG  
PolyMut mutation  
Mutation 1310_1311dupGA  
Published Name 1310-1311insGA  
Amino Acid Change D437E+80X  
Exon exon 10  
Type frameshift  
Comment  
Source Demuth I et al. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000 Nov; 8(11): 861-8  
Proper Nomenclature  
Proper Nomenclature cDNA c.1310_1311dupGA  

GENE FANCG  
PolyMut mutation  
Mutation 1593delC  
Published Name 1593delC  
Amino Acid Change  
Exon exon 12  
Type frameshift  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA c.1593delC  

GENE FANCG  
PolyMut mutation  
Mutation 1649delC  
Published Name 1649delC  
Amino Acid Change T550I+7X  
Exon exon 13  
Type frameshift  
Comment  
Source Demuth I et al. Spectrum of mutations in the Fanconi anaemia group g gene, FANCG/XRCC9. Eur J Hum Genet. 2000 Nov; 8(11): 861-8  
Proper Nomenclature  
Proper Nomenclature cDNA c.1649delC  

GENE FANCG  
PolyMut mutation  
Mutation 1794_1803del10  
Published Name 1794_1803del10  
Amino Acid Change  
Exon exon 14  
Type frameshift  
Comment  
Source Auerbach et al (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA c.1794_1803del10  

GENE FANCG  
PolyMut mutation  
Mutation 1771dupC  
Published Name 1771_1772insC  
Amino Acid Change  
Exon exon 14  
Type frameshift  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA c.1771dupC  

GENE FANCG  
PolyMut mutation  
Mutation 118C>T  
Published Name 118C>T  
Amino Acid Change Q40X  
Exon exon 2  
Type stop codon  
Comment  
Source Auerbach et al (2003)  
Proper Nomenclature p.Gln40X  
Proper Nomenclature cDNA c.118C>T  

GENE FANCG  
PolyMut mutation  
Mutation 313G>T  
Published Name 313G>T  
Amino Acid Change E105X  
Exon exon 4  
Type stop codon  
Comment  
Source de Winter JP et al. The Fanconi anaemia Group G gene FANCG is identical with XRCC9. Nat Genet 1998 Nov;20(3): 281-3  
Proper Nomenclature p.Glu105X  
Proper Nomenclature cDNA c.313G>T  

GENE FANCG  
PolyMut mutation  
Mutation 565G>T  
Published Name 565G>T  
Amino Acid Change E189X  
Exon exon 5  
Type stop codon  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Glu189X  
Proper Nomenclature cDNA c.565G>T  

GENE FANCG  
PolyMut mutation  
Mutation 1066C>T  
Published Name 1066C>T  
Amino Acid Change Q356X  
Exon exon 8  
Type stop codon  
Comment  
Source Yamada T et al. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J Hum Genet. 2000; 45(3): 159-66.  
Proper Nomenclature p.Gln356X  
Proper Nomenclature cDNA c.1066C>T  

GENE FANCG  
PolyMut mutation  
Mutation 1642C>T  
Published Name 1642C>T  
Amino Acid Change R548X  
Exon exon 13  
Type stop codon  
Comment  
Source Demuth I et al. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000 Nov; 8(11): 861-8.  
Proper Nomenclature p.Arg548X  
Proper Nomenclature cDNA c.1642C>T  

GENE FANCG  
PolyMut mutation  
Mutation IVS3+1G>C  
Published Name IVS3+1G>C  
Amino Acid Change  
Exon intron 3  
Type RNA splicing  
Comment  
Source Yamada T et al. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi Anemia J Hum Genet. 2000;45(3):159-66.  
Proper Nomenclature  
Proper Nomenclature cDNA c.307+1G>C  

GENE FANCG  
PolyMut mutation  
Mutation IVS8-2A>G  
Published Name IVS8-2A>G  
Amino Acid Change  
Exon intron 8  
Type RNA splicing  
Comment  
Source Demuth I. et al. Spectrum of mutations in the Fanconi Anemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000 Nov; 8(11): 861-8.  
Proper Nomenclature  
Proper Nomenclature cDNA c.1087-2A>G  

GENE FANCG  
PolyMut mutation  
Mutation IVS9+5G>A  
Published Name IVS9+5G>A  
Amino Acid Change  
Exon intron 9  
Type RNA splicing  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA c.1143+5G>A  

GENE FANCG  
PolyMut mutation  
Mutation [IVS9-10C>A;IVS9-11T>G]  
Published Name [IVS9-10C>A;IVS9-11T>G]  
Amino Acid Change  
Exon intron 9  
Type RNA splicing  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA [c.1144-10C>A + c.1144-11T>G]  

GENE FANCG  
PolyMut mutation  
Mutation IVS11+1G>C  
Published Name IVS11+1G>C  
Amino Acid Change  
Exon intron 11  
Type RNA splicing  
Comment  
Source de Winter JP. et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet. 1998 Nov; 20(3):281-3  
Proper Nomenclature  
Proper Nomenclature cDNA c.1480+1G>C  

GENE FANCG  
PolyMut mutation  
Mutation 244dupG  
Published Name 244-245insG  
Amino Acid Change  
Exon exon 3  
Type frameshift  
Comment  
Source Andrea et al., Experimental Hematology, 2001  
Proper Nomenclature  
Proper Nomenclature cDNA c.244dupG  

GENE FANCG  
PolyMut mutation  
Mutation IVS9-1G>C  
Published Name IVS9-1G>C  
Amino Acid Change R359S+20X  
Exon intron 9  
Type RNA splicing  
Comment  
Source Demuth et al., European Journal of Human Genetics 2000  
Proper Nomenclature  
Proper Nomenclature cDNA c.1144-1G>C  

GENE FANCG  
PolyMut mutation  
Mutation 1636G>C  
Published Name 1636G>C  
Amino Acid Change A495-G546del  
Exon exon 12  
Type AA substitution  
Comment  
Source Demuth et al, European Journal of Human Genetics, 2000  
Proper Nomenclature p.Ala495_Gly546del  
Proper Nomenclature cDNA c.1636G>A  

GENE FANCG  
PolyMut mutation  
Mutation IVS2+1G>A  
Published Name IVS2+1G>A  
Amino Acid Change V29G+11X  
Exon intron 2  
Type exon skip  
Comment  
Source Demuth et al., European Journal of Human Genetics 2000  
Proper Nomenclature DelExon2  
Proper Nomenclature cDNA c.175+1G>A  

GENE FANCG  
PolyMut mutation  
Mutation 346_347delCA  
Published Name 346-347del  
Amino Acid Change Q116G+36X  
Exon exon 4  
Type frameshift  
Comment  
Source Demuth et al., European Journal of Human Genetics, 2000  
Proper Nomenclature  
Proper Nomenclature cDNA c.346_347delCA  

GENE FANCG  
PolyMut mutation  
Mutation 652C>T  
Published Name 652C>T  
Amino Acid Change Q218X  
Exon exon 6  
Type stop codon  
Comment  
Source Demuth et al., European Journal of Human Genetics 2000  
Proper Nomenclature p.Gln218X  
Proper Nomenclature cDNA c.652C>T  

GENE FANCG  
PolyMut mutation  
Mutation 212T>C  
Published Name 212T>C  
Amino Acid Change L71P  
Exon exon 3  
Type AA substitution  
Comment  
Source Demuth et al., European Journal of Human Genetics 2000  
Proper Nomenclature p.Leu71Pro  
Proper Nomenclature cDNA c.212T>C  

GENE FANCG  
PolyMut mutation  
Mutation IVS5+1G>T  
Published Name IVS5+1G>T  
Amino Acid Change S171V+3X  
Exon intron 5  
Type RNA splicing  
Comment  
Source Demuth et al., European Journal of Human Genetics, 2000  
Proper Nomenclature  
Proper Nomenclature cDNA c.646+1G>T  

GENE FANCG  
PolyMut mutation  
Mutation 1749delA  
Published Name 1749delA  
Amino Acid Change D584M+8X  
Exon exon 13  
Type frameshift  
Comment  
Source Demuth et al., European Journal of Human Genetics 2000  
Proper Nomenclature  
Proper Nomenclature cDNA c.1749delA  

GENE FANCG  
PolyMut mutation  
Mutation 1715G>A  
Published Name 1715G>A  
Amino Acid Change W572X  
Exon exon 13  
Type stop codon  
Comment  
Source Demuth et al., European Journal of human genetics, 2000  
Proper Nomenclature p.Trp572X  
Proper Nomenclature cDNA c.1715G>A  

GENE FANCG  
PolyMut mutation  
Mutation 109_110delCT  
Published Name 109-110del  
Amino Acid Change L37E+17X  
Exon exon 2  
Type frameshift  
Comment  
Source Demuth et al., European Journal of Human Genetics, 2000  
Proper Nomenclature  
Proper Nomenclature cDNA c.109_110delCT  

GENE FANCG  
PolyMut mutation  
Mutation IVS13-1G>C  
Published Name IVS13-1G>C  
Amino Acid Change  
Exon intron 13  
Type RNA splicing  
Comment  
Source Demuth et al., European Journal of Human Genetics 2000  
Proper Nomenclature  
Proper Nomenclature cDNA c.1761-1G>C  

GENE FANCG  
PolyMut mutation  
Mutation 572T>G  
Published Name 572T>G  
Amino Acid Change L191X  
Exon exon 5  
Type stop codon  
Comment  
Source Auerbach et al. [2003]  
Proper Nomenclature p.Leu191X  
Proper Nomenclature cDNA c.572T>C