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rs80358456

From SNPedia

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


Make rs80358456(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333167
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358456
ebirs80358456
HLIrs80358456
Exacrs80358456
Varsomers80358456
Maprs80358456
PheGenIrs80358456
hapmaprs80358456
1000 genomesrs80358456
hgdprs80358456
ensemblrs80358456
gopubmedrs80358456
geneviewrs80358456
scholarrs80358456
googlers80358456
pharmgkbrs80358456
gwascentralrs80358456
openSNPrs80358456
23andMers80358456
23andMe allrs80358456
SNP Nexus

SNPshotrs80358456
SNPdbers80358456
MSV3drs80358456
GWAS Ctlgrs80358456
Max Magnitude6
rs80358456, also known as W563X, c.1689G>A and p.Trp563Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358456(A,C;A,C)
Alt rs80358456(A,C;A,C)
Reference rs80358456(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907304G>A
CLNSRC ClinVar
CLNACC RCV000043863.2, RCV000112960.2,