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rs80357284

From SNPedia

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


Make rs80357284(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049181
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357284
ebirs80357284
HLIrs80357284
Exacrs80357284
Varsomers80357284
Maprs80357284
PheGenIrs80357284
hapmaprs80357284
1000 genomesrs80357284
hgdprs80357284
ensemblrs80357284
gopubmedrs80357284
geneviewrs80357284
scholarrs80357284
googlers80357284
pharmgkbrs80357284
gwascentralrs80357284
openSNPrs80357284
23andMers80357284
23andMe allrs80357284
SNP Nexus

SNPshotrs80357284
SNPdbers80357284
MSV3drs80357284
GWAS Ctlgrs80357284
Max Magnitude6
rs80357284, also known as W1782X, c.5346G>A and p.Trp1782Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357284(A;A)
Alt rs80357284(A;A)
Reference rs80357284(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.41201198C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031239.7, RCV000048952.2, RCV000131866.2,