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rs80359421

From SNPedia

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


Make rs80359421(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338392
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359421
ebirs80359421
HLIrs80359421
Exacrs80359421
Varsomers80359421
Maprs80359421
PheGenIrs80359421
hapmaprs80359421
1000 genomesrs80359421
hgdprs80359421
ensemblrs80359421
gopubmedrs80359421
geneviewrs80359421
scholarrs80359421
googlers80359421
pharmgkbrs80359421
gwascentralrs80359421
openSNPrs80359421
23andMers80359421
23andMe allrs80359421
SNP Nexus

SNPshotrs80359421
SNPdbers80359421
MSV3drs80359421
GWAS Ctlgrs80359421
Max Magnitude6
rs80359421, also known as 4265delCT, c.4037_4038delCT and p.Thr1346Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359421(;)
Alt rs80359421(;)
Reference rs80359421(CT;CT)
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.32912529_32912530delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044334.2, RCV000077318.4,