Variant: rs104886456 

    present in Gene: FANCC
    present in Chromosome: 9
    Position on Chromosome: 95172033
    Alleles of this Variant: T/A

rs104886456 in FANCC gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 16015582 2005 Should chromosome breakage studies be performed in patients with VACTERL association?

PMID 19622403 2009 Fanconi anemia and its diagnosis.

PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 15364573 2004 Intermediate DNA repair activity associated with the 322delG allele of the fanconi anemia complementation group C gene.

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

PMID 11427142 2001 Preimplantation diagnosis for Fanconi anemia combined with HLA matching.

PMID 8639804 1996 Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

PMID 7492758 1995 Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.

PMID 8081385 1994 The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.

rs104886456 in FANCC gene and Fanconi Anemia PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 8081385 1994 The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.

rs104886456 in FANCC gene and Neoplastic Syndromes, Hereditary PMID 22701786 2012 A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 15516848 2004 Fanconi anemia in Ashkenazi Jews.

PMID 8639804 1996 Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

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

PMID 26778106 2016 The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.