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rs80359326

From SNPedia

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


Make rs80359326(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336609
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359326
ebirs80359326
HLIrs80359326
Exacrs80359326
Varsomers80359326
Maprs80359326
PheGenIrs80359326
hapmaprs80359326
1000 genomesrs80359326
hgdprs80359326
ensemblrs80359326
gopubmedrs80359326
geneviewrs80359326
scholarrs80359326
googlers80359326
pharmgkbrs80359326
gwascentralrs80359326
openSNPrs80359326
23andMers80359326
23andMe allrs80359326
SNP Nexus

SNPshotrs80359326
SNPdbers80359326
MSV3drs80359326
GWAS Ctlgrs80359326
Max Magnitude6
rs80359326, also known as 2482del4, c.2254_2257delGACT and p.Asp752_Phe753?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359326(;)
Alt rs80359326(;)
Reference rs80359326(ACTG;ACTG)
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.32910746_32910749delGACT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043962.2, RCV000113027.1,