RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 22167183 2012
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 20400963 2010
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.800 GeneticVariation UNIPROT Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 20400963 2010
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.800 GeneticVariation UNIPROT Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 24141787 2014
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart. 26354865 2015
dbSNP: rs1057517641
rs1057517641
Entrez Id: 5889;56155
Gene Symbol: RAD51C;TEX14
RAD51C;TEX14
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060502601
rs1060502601
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
dbSNP: rs1060502601
rs1060502601
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.700 CausalMutation CLINVAR Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. 26261251 2015
dbSNP: rs1060502605
rs1060502605
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1064792966
rs1064792966
Entrez Id: 5889;105371843
Gene Symbol: RAD51C;LOC105371843
RAD51C;LOC105371843
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Identification of functional domains in the RAD51L2 (RAD51C) protein and its requirement for gene conversion. 12966089 2003
dbSNP: rs1327086366
rs1327086366
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.700 GeneticVariation CLINVAR Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan. 24800917 2014
dbSNP: rs1327086366
rs1327086366
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.700 GeneticVariation CLINVAR Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 20400964 2010
dbSNP: rs1327086366
rs1327086366
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.700 GeneticVariation CLINVAR Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. 21990120 2012
dbSNP: rs145310733
rs145310733
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		G 0.700 GeneticVariation CLINVAR Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 20400964 2010
dbSNP: rs145310733
rs145310733
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		G 0.700 GeneticVariation CLINVAR Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan. 24800917 2014
dbSNP: rs145310733
rs145310733
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		G 0.700 GeneticVariation CLINVAR Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. 21990120 2012
dbSNP: rs1555591851
rs1555591851
Entrez Id: 5889;56155
Gene Symbol: RAD51C;TEX14
RAD51C;TEX14
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555593616
rs1555593616
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555593715
rs1555593715
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555594864
rs1555594864
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555597094
rs1555597094
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555599288
rs1555599288
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 GeneticVariation CLINVAR Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 20400964 2010
dbSNP: rs1555599288
rs1555599288
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 GeneticVariation CLINVAR Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. 21990120 2012
dbSNP: rs1555599288
rs1555599288
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		T 0.700 GeneticVariation CLINVAR Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan. 24800917 2014