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rs80356875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356875(A;A)
Make rs80356875(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093373
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356875
ebirs80356875
HLIrs80356875
Exacrs80356875
Varsomers80356875
Maprs80356875
PheGenIrs80356875
hapmaprs80356875
1000 genomesrs80356875
hgdprs80356875
ensemblrs80356875
gopubmedrs80356875
geneviewrs80356875
scholarrs80356875
googlers80356875
pharmgkbrs80356875
gwascentralrs80356875
openSNPrs80356875
23andMers80356875
23andMe allrs80356875
SNP Nexus

SNPshotrs80356875
SNPdbers80356875
MSV3drs80356875
GWAS Ctlgrs80356875
Max Magnitude6
rs80356875, also known as E720X, c.2158G>T and p.Glu720Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356875(A,T;A,T)
Alt rs80356875(A,T;A,T)
Reference rs80356875(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245390C>A; NC_000017.10:g.41245390C>T
CLNSRC ClinVar
CLNACC RCV000031034.4, RCV000047737.2, RCV000162852.1, RCV000047736.2, RCV000077506.3, RCV000164061.1,