Variant: rs104886458 

    present in Gene: FANCC;AOPEP
    present in Chromosome: 9
    Position on Chromosome: 95101723
    Alleles of this Variant: A/G

rs104886458 in FANCC;AOPEP gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 8499901 1993 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 24469828 2014 The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.

PMID 11520787 2001 The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

PMID 12093742 2002 FANCE: the link between Fanconi anaemia complex assembly and activity.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 16015582 2005 Should chromosome breakage studies be performed in patients with VACTERL association?

PMID 9242535 1997 The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.

PMID 8703809 1996 Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations.

PMID 26466335 2015 The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation.

PMID 1574115 1992 Cloning of cDNAs for Fanconi's anaemia by functional complementation.

PMID 15299030 2004 The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PMID 9207444 1997 Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.