FANCG Polymorphism
GENE FANCG  
PolyMut polymorphism  
Mutation 77A>G  
Published Name 77A/G  
Amino Acid Change Q26R  
Exon exon 1  
Type AA substitution  
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 p.Gln26Arg  
Proper Nomenclature cDNA NM_004629.1:c.77A>G  

GENE FANCG  
PolyMut polymorphism  
Mutation 333G>A  
Published Name 333G/A  
Amino Acid Change G111G  
Exon exon 4  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Gly111Gly  
Proper Nomenclature cDNA NM_004629.1:c.333G>A  

GENE FANCG  
PolyMut polymorphism  
Mutation 563C>T  
Published Name 563C/T  
Amino Acid Change A188V  
Exon exon 5  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Ala188Val  
Proper Nomenclature cDNA NM_004629.1:c.563C>T  

GENE FANCG  
PolyMut polymorphism  
Mutation 890C>T  
Published Name 890C/T  
Amino Acid Change T297I  
Exon exon 7  
Type AA substitution  
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.Thr297Ile  
Proper Nomenclature cDNA NM_004629.1:c.890C>T  

GENE FANCG  
PolyMut polymorphism  
Mutation 1538G>A  
Published Name 1538G/A  
Amino Acid Change R513Q  
Exon exon 12  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Arg513Gln  
Proper Nomenclature cDNA NM_004629.1:c.1538G>A  

GENE FANCG  
PolyMut polymorphism  
Mutation IVS12+7G>A  
Published Name IVS12+7G/A  
Amino Acid Change  
Exon intron 12  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA  

GENE FANCG  
PolyMut polymorphism  
Mutation 1638T>C  
Published Name 1638T/C  
Amino Acid Change G546G  
Exon exon 13  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Gly546Gly  
Proper Nomenclature cDNA NM_004629.1:c.1638T>C  

GENE FANCG  
PolyMut polymorphism  
Mutation 1133C>T  
Published Name 1133C/T  
Amino Acid Change S378L  
Exon exon 9  
Type AA substitution  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature p.Ser378Leu  
Proper Nomenclature cDNA NM_004629.1:c.1133C>T  

GENE FANCG  
PolyMut polymorphism  
Mutation IVS5+58C>T  
Published Name IVS5+58C/T  
Amino Acid Change  
Exon intron 5  
Type no change  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA NM_004629.1:c.646+58C>T  

GENE FANCG  
PolyMut polymorphism  
Mutation IVS12-38-(-28)del11  
Published Name IVS12-38-(-28)del11  
Amino Acid Change  
Exon intron 12  
Type unknown  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA  

GENE FANCG  
PolyMut polymorphism  
Mutation IVS12-24-__(-23)del2  
Published Name IVS12-24-(-23)del2  
Amino Acid Change  
Exon intron 12  
Type unknown  
Comment  
Source Auerbach et al. (2003)  
Proper Nomenclature  
Proper Nomenclature cDNA  

GENE FANCG  
PolyMut polymorphism  
Mutation 20C>T  
Published Name 20C/T  
Amino Acid Change S7F  
Exon exon 1  
Type AA substitution  
Comment  
Source Demuth et al., European Journal of Human Genetics  
Proper Nomenclature p.Ser7Phe  
Proper Nomenclature cDNA NM_004629.1:c.20C>T