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rs80357366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357366(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074403
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357366
ebirs80357366
HLIrs80357366
Exacrs80357366
Varsomers80357366
Maprs80357366
PheGenIrs80357366
hapmaprs80357366
1000 genomesrs80357366
hgdprs80357366
ensemblrs80357366
gopubmedrs80357366
geneviewrs80357366
scholarrs80357366
googlers80357366
pharmgkbrs80357366
gwascentralrs80357366
openSNPrs80357366
23andMers80357366
23andMe allrs80357366
SNP Nexus

SNPshotrs80357366
SNPdbers80357366
MSV3drs80357366
GWAS Ctlgrs80357366
Max Magnitude6
rs80357366, also known as E1535X, c.4603G>T and p.Glu1535Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357366(T;T)
Alt rs80357366(T;T)
Reference rs80357366(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41226420C>A; NC_000017.10:g.41226420C>T
CLNSRC ClinVar
CLNACC RCV000048603.4, RCV000077578.3, RCV000162879.1, RCV000235132.1, RCV000219129.1,