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rs80358544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80358544(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337334
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358544
ebirs80358544
HLIrs80358544
Exacrs80358544
Varsomers80358544
Maprs80358544
PheGenIrs80358544
hapmaprs80358544
1000 genomesrs80358544
hgdprs80358544
ensemblrs80358544
gopubmedrs80358544
geneviewrs80358544
scholarrs80358544
googlers80358544
pharmgkbrs80358544
gwascentralrs80358544
openSNPrs80358544
23andMers80358544
23andMe allrs80358544
SNP Nexus

SNPshotrs80358544
SNPdbers80358544
MSV3drs80358544
GWAS Ctlgrs80358544
Max Magnitude6
rs80358544, also known as W993X, c.2979G>A and p.Trp993Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358544(A;A)
Alt rs80358544(A;A)
Reference rs80358544(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32911471G>A
CLNSRC ClinVar
CLNACC RCV000031393.4, RCV000044097.4, RCV000162915.1, RCV000203665.1,