| 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 |