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rs80359397

From SNPedia

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


Make rs80359397(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338040
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359397
ebirs80359397
HLIrs80359397
Exacrs80359397
Varsomers80359397
Maprs80359397
PheGenIrs80359397
hapmaprs80359397
1000 genomesrs80359397
hgdprs80359397
ensemblrs80359397
gopubmedrs80359397
geneviewrs80359397
scholarrs80359397
googlers80359397
pharmgkbrs80359397
gwascentralrs80359397
openSNPrs80359397
23andMers80359397
23andMe allrs80359397
SNP Nexus

SNPshotrs80359397
SNPdbers80359397
MSV3drs80359397
GWAS Ctlgrs80359397
Max Magnitude6
rs80359397, also known as 3913delG, c.3685_3685delG and p.Val1229Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359397(;)
Alt rs80359397(;)
Reference rs80359397(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.32912177delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044244.2, RCV000113207.1,