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rs80359327

From SNPedia

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


Make rs80359327(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336642
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359327
ebirs80359327
HLIrs80359327
Exacrs80359327
Varsomers80359327
Maprs80359327
PheGenIrs80359327
hapmaprs80359327
1000 genomesrs80359327
hgdprs80359327
ensemblrs80359327
gopubmedrs80359327
geneviewrs80359327
scholarrs80359327
googlers80359327
pharmgkbrs80359327
gwascentralrs80359327
openSNPrs80359327
23andMers80359327
23andMe allrs80359327
SNP Nexus

SNPshotrs80359327
SNPdbers80359327
MSV3drs80359327
GWAS Ctlgrs80359327
Max Magnitude6
rs80359327, also known as 2515delC, c.2287_2287delC and p.His763Metfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359327(;)
Alt rs80359327(;)
Reference rs80359327(C;C)
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.32910779delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043969.2, RCV000077275.3,