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rs80357115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 Normal


Make rs80357115(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092597
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357115
ebirs80357115
HLIrs80357115
Exacrs80357115
Varsomers80357115
Maprs80357115
PheGenIrs80357115
hapmaprs80357115
1000 genomesrs80357115
hgdprs80357115
ensemblrs80357115
gopubmedrs80357115
geneviewrs80357115
scholarrs80357115
googlers80357115
pharmgkbrs80357115
gwascentralrs80357115
openSNPrs80357115
23andMers80357115
23andMe allrs80357115
SNP Nexus

SNPshotrs80357115
SNPdbers80357115
MSV3drs80357115
GWAS Ctlgrs80357115
Max Magnitude6
rs80357115, also known as Y978X, c.2934T>G and p.Tyr978Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357115(G;G)
Alt rs80357115(G;G)
Reference rs80357115(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244614A>C
CLNSRC ClinVar
CLNACC RCV000031074.6, RCV000048017.5, RCV000162860.1, RCV000195361.3,