Gene | FANCC |
PolyMut | polymorphism |
Mutation | 1974G/A |
Published Name | 1974G->A |
Amino acid change | |
Exon | exon |
Type | no change |
Comment | |
Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 663A/G |
Published Name | 663A->G |
Amino acid change | |
Exon | exon 4 |
Type | no change |
Comment | |
Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 887C>G |
Published Name | 887C>G |
Amino acid change | P211R |
Exon | exon 6 |
Type | AA substitution |
Comment | |
Source | Awan et al., Blood, 1998 |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 839A/T |
Published Name | D195V |
Amino acid change | D/V195 |
Exon | exon 6 |
Type | AA substitution |
Comment | |
Source | Verlander et al. Am J Hum Gen 54:595-601 (1994) |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 671G/A |
Published Name | G139E |
Amino acid change | G/E139 |
Exon | exon 4 |
Type | AA substitution |
Comment | |
Source | Whitney et al. Nature Gen 4:202-205 (1993)Verlander et al. Am J Hum Gen 54:595-601 (1994) |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 1189A/G |
Published Name | I312V |
Amino acid change | I/V312 |
Exon | exon 9 |
Type | AA substitution |
Comment | |
Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | IVS6+30C/T |
Published Name | IVS6+30C->T |
Amino acid change | |
Exon | intron 6 |
Type | no change |
Comment | |
Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 823C/T |
Published Name | L190F |
Amino acid change | L/F190 |
Exon | exon 6 |
Type | AA substitution |
Comment | |
Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 1649A/G |
Published Name | Q465R |
Amino acid change | Q/R465 |
Exon | exon 13 |
Type | AA substitution |
Comment | |
Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 332C/T |
Published Name | S26F |
Amino acid change | S/F26 |
Exon | exon 1 |
Type | AA substitution |
Comment | |
Source | Verlander et al. Am J Hum Gen 54:595-601 (1994) |
Gene | FANCC |
PolyMut | polymorphism |
Mutation | 1600G/A |
Published Name | V449M |
Amino acid change | V/M449 |
Exon | exon 13 |
Type | AA substitution |
Comment | |
Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |