FANCC Polymorphisms
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