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rs80357292

From SNPedia

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


Make rs80357292(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094569
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357292
ebirs80357292
HLIrs80357292
Exacrs80357292
Varsomers80357292
Maprs80357292
PheGenIrs80357292
hapmaprs80357292
1000 genomesrs80357292
hgdprs80357292
ensemblrs80357292
gopubmedrs80357292
geneviewrs80357292
scholarrs80357292
googlers80357292
pharmgkbrs80357292
gwascentralrs80357292
openSNPrs80357292
23andMers80357292
23andMe allrs80357292
SNP Nexus

SNPshotrs80357292
SNPdbers80357292
MSV3drs80357292
GWAS Ctlgrs80357292
Max Magnitude6
rs80357292, also known as W321X, c.962G>A and p.Trp321Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357292(A;A)
Alt rs80357292(A;A)
Reference rs80357292(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome not specified
Reversed 1
HGVS NC_000017.10:g.41246586C>T
CLNSRC ClinVar
CLNACC RCV000031293.5, RCV000049204.4, RCV000159948.2, RCV000162891.1, RCV000239176.1,