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rs80356885

From SNPedia

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


Make rs80356885(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074482
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356885
ebirs80356885
HLIrs80356885
Exacrs80356885
Varsomers80356885
Maprs80356885
PheGenIrs80356885
hapmaprs80356885
1000 genomesrs80356885
hgdprs80356885
ensemblrs80356885
gopubmedrs80356885
geneviewrs80356885
scholarrs80356885
googlers80356885
pharmgkbrs80356885
gwascentralrs80356885
openSNPrs80356885
23andMers80356885
23andMe allrs80356885
SNP Nexus

SNPshotrs80356885
SNPdbers80356885
MSV3drs80356885
GWAS Ctlgrs80356885
Max Magnitude6
rs80356885, also known as W1508X, c.4524G>A and p.Trp1508Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356885(A;A)
Alt rs80356885(A;A)
Reference rs80356885(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41226499C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048586.4, RCV000077575.4, RCV000129129.2, RCV000236102.1,