FANCC, FA complementation group C, 2176

N. diseases: 218; N. variants: 90
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR FANCE: the link between Fanconi anaemia complex assembly and activity. 12093742 2002
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation. 26466335 2015
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 9207444 1997
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression. 24469828 2014
dbSNP: rs121917785
rs121917785
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121917783
rs121917783
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.710 CausalMutation CLINVAR Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 23028338 2012
dbSNP: rs121917783
rs121917783
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.710 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927 2012
dbSNP: rs121917783
rs121917783
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.710 CausalMutation CLINVAR A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. 7689011 1993
dbSNP: rs1035139114
rs1035139114
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. 22701786 2012
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 8348157 1993
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Intermediate DNA repair activity associated with the 322delG allele of the fanconi anemia complementation group C gene. 15364573 2004
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 8348157 1993
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 8348157 1993
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. 10666230 2000
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers. 26778106 2016
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Should chromosome breakage studies be performed in patients with VACTERL association? 16015582 2005
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 9207444 1997
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. 8081385 1994
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. 10666230 2000
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Fanconi anemia in Ashkenazi Jews. 15516848 2004
dbSNP: rs104886456
rs104886456
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. 8081385 1994