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rs80359402

From SNPedia

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


Make rs80359402(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338092
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359402
ebirs80359402
HLIrs80359402
Exacrs80359402
Varsomers80359402
Maprs80359402
PheGenIrs80359402
hapmaprs80359402
1000 genomesrs80359402
hgdprs80359402
ensemblrs80359402
gopubmedrs80359402
geneviewrs80359402
scholarrs80359402
googlers80359402
pharmgkbrs80359402
gwascentralrs80359402
openSNPrs80359402
23andMers80359402
23andMe allrs80359402
SNP Nexus

SNPshotrs80359402
SNPdbers80359402
MSV3drs80359402
GWAS Ctlgrs80359402
Max Magnitude6
rs80359402, also known as 3965delA, c.3737_3737delA and p.Asn1246Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359402(;)
Alt rs80359402(;)
Reference rs80359402(A;A)
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.32912229delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044252.2, RCV000113211.1,