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rs80359427

From SNPedia

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


Make rs80359427(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32325169
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359427
ebirs80359427
HLIrs80359427
Exacrs80359427
Varsomers80359427
Maprs80359427
PheGenIrs80359427
hapmaprs80359427
1000 genomesrs80359427
hgdprs80359427
ensemblrs80359427
gopubmedrs80359427
geneviewrs80359427
scholarrs80359427
googlers80359427
pharmgkbrs80359427
gwascentralrs80359427
openSNPrs80359427
23andMers80359427
23andMe allrs80359427
SNP Nexus

SNPshotrs80359427
SNPdbers80359427
MSV3drs80359427
GWAS Ctlgrs80359427
Max Magnitude6
rs80359427, also known as 638delC, c.410_410delC and p.Ser137Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359427(;)
Alt rs80359427(;)
Reference rs80359427(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.32899306delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044352.2, RCV000113539.1,