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rs80359289

From SNPedia

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


Make rs80359289(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333025
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359289
ebirs80359289
HLIrs80359289
Exacrs80359289
Varsomers80359289
Maprs80359289
PheGenIrs80359289
hapmaprs80359289
1000 genomesrs80359289
hgdprs80359289
ensemblrs80359289
gopubmedrs80359289
geneviewrs80359289
scholarrs80359289
googlers80359289
pharmgkbrs80359289
gwascentralrs80359289
openSNPrs80359289
23andMers80359289
23andMe allrs80359289
SNP Nexus

SNPshotrs80359289
SNPdbers80359289
MSV3drs80359289
GWAS Ctlgrs80359289
Max Magnitude6
rs80359289, also known as 1775delT, c.1547_1547delT and p.Phe516Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359289(;)
Alt rs80359289(;)
Reference rs80359289(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.32907162delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043825.2, RCV000112933.1,