FANCC Mutations
Gene FANCC  
PolyMut mutation  
Mutation 292C>T  
Published Name Q13X  
Amino acid change Q13X  
Exon exon 1  
Type stop codon  
Comment  
Source Verlander et al. Am J Hun Gen 54:595-601 (1994) Murer-Orlando et al. Lancet 342:686 (1993)  
Proper Nomenclature p.Gln13X  
Proper Nomenclature c.292C>T  

Gene FANCC  
PolyMut mutation  
Mutation 808C>T  
Published Name R185X  
Amino acid change R185X  
Exon exon 6  
Type stop codon  
Comment  
Source Gibson et al.Hum Mol Gen 2:797-799 (1993)  
Proper Nomenclature p.Arg185X  
Proper Nomenclature c.808C>T  

Gene FANCC  
PolyMut mutation  
Mutation 1742T>G  
Published Name L496R  
Amino acid change L496R  
Exon exon 13  
Type AA substitution  
Comment  
Source Gibson et al. Hum Mut 8:140-148  
Proper Nomenclature p.Leu496Arg  
Proper Nomenclature c.1742T>G  

Gene FANCC  
PolyMut mutation  
Mutation 1897C>T  
Published Name R548X  
Amino acid change R548X  
Exon exon 14  
Type Stop codon  
Comment  
Source Murer-Orlando et al. Lancet 342:686 (1993)  
Proper Nomenclature p.Arg548X  
Proper Nomenclature c.1897C>T  

Gene FANCC  
PolyMut mutation  
Mutation 322delG  
Published Name 322delG  
Amino acid change 23D>I+21aa  
Exon exon 1  
Type Frameshift  
Comment frameshift; 44aa peptide (D23I+21aa)  
Source Strathdee et al. Nature 356:763-767 (1992)  
Proper Nomenclature Frameshift  
Proper Nomenclature c.322delG  

Gene FANCC  
PolyMut mutation  
Mutation IVS4+4A>T  
Published Name IVS4+4A->T  
Amino acid change  
Exon intron 4  
Type RNA splicing  
Comment Japanese mutation IVS4 +4A->T found on different allele.  
Source Whitney et al. Nature Gen 4:202-205 (1993)  
Proper Nomenclature Splice Site  
Proper Nomenclature c.711+4A>T  

Gene FANCC  
PolyMut mutation  
Mutation 1916C>T  
Published Name L554P  
Amino acid change L554P  
Exon exon 14  
Type AA substitution  
Comment  
Source Strathdee et al. Nature Gen 1:196-198 (1992)  
Proper Nomenclature p.Leu554Pro  
Proper Nomenclature c.1916C>T  

Gene FANCC  
PolyMut mutation  
Mutation 1806_1807insA  
Published Name 1806insA  
Amino acid change  
Exon exon 14  
Type frameshift  
Comment  
Source Lo Ten Foe et al. Hum Mut 7:264-265 (1996)  
Proper Nomenclature Frameshift  
Proper Nomenclature c.1806_1807insA  

Gene FANCC  
PolyMut mutation  
Mutation 775C>T  
Published Name 775C->T  
Amino acid change R174X  
Exon exon 5  
Type stop codon  
Comment  
Source Lo Ten Foe et al. Hum Mut 8: (1996)  
Proper Nomenclature p.Arg174X  
Proper Nomenclature c.775C>T