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rs80359286

From SNPedia

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


Make rs80359286(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332989
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359286
ebirs80359286
HLIrs80359286
Exacrs80359286
Varsomers80359286
Maprs80359286
PheGenIrs80359286
hapmaprs80359286
1000 genomesrs80359286
hgdprs80359286
ensemblrs80359286
gopubmedrs80359286
geneviewrs80359286
scholarrs80359286
googlers80359286
pharmgkbrs80359286
gwascentralrs80359286
openSNPrs80359286
23andMers80359286
23andMe allrs80359286
SNP Nexus

SNPshotrs80359286
SNPdbers80359286
MSV3drs80359286
GWAS Ctlgrs80359286
Max Magnitude6
rs80359286, also known as 1739delCT, c.1511_1512delCT and p.Ser504Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359286(;)
Alt rs80359286(;)
Reference rs80359286(TC;TC)
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.32907126_32907127delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043819.2, RCV000112929.1,