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rs80359317

From SNPedia

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


Make rs80359317(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336381
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359317
ebirs80359317
HLIrs80359317
Exacrs80359317
Varsomers80359317
Maprs80359317
PheGenIrs80359317
hapmaprs80359317
1000 genomesrs80359317
hgdprs80359317
ensemblrs80359317
gopubmedrs80359317
geneviewrs80359317
scholarrs80359317
googlers80359317
pharmgkbrs80359317
gwascentralrs80359317
openSNPrs80359317
23andMers80359317
23andMe allrs80359317
SNP Nexus

SNPshotrs80359317
SNPdbers80359317
MSV3drs80359317
GWAS Ctlgrs80359317
Max Magnitude6
rs80359317, also known as 2254delT, c.2026_2026delT and p.Cys676Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359317(;)
Alt rs80359317(;)
Reference rs80359317(T;T)
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.32910518delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043936.2, RCV000113007.1,