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rs80356935

From SNPedia

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


Make rs80356935(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094472
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356935
ebirs80356935
HLIrs80356935
Exacrs80356935
Varsomers80356935
Maprs80356935
PheGenIrs80356935
hapmaprs80356935
1000 genomesrs80356935
hgdprs80356935
ensemblrs80356935
gopubmedrs80356935
geneviewrs80356935
scholarrs80356935
googlers80356935
pharmgkbrs80356935
gwascentralrs80356935
openSNPrs80356935
23andMers80356935
23andMe allrs80356935
SNP Nexus

SNPshotrs80356935
SNPdbers80356935
MSV3drs80356935
GWAS Ctlgrs80356935
Max Magnitude6
rs80356935, also known as W353X, c.1059G>A and p.Trp353Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356935(A,C;A,C)
Alt rs80356935(A,C;A,C)
Reference rs80356935(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246489C>G; NC_000017.10:g.41246489C>T
CLNSRC ClinVar
CLNACC RCV000165799.1, RCV000047321.2, RCV000111534.1,