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rs80359748

From SNPedia

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


Make rs80359748(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379895
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359748
ebirs80359748
HLIrs80359748
Exacrs80359748
Varsomers80359748
Maprs80359748
PheGenIrs80359748
hapmaprs80359748
1000 genomesrs80359748
hgdprs80359748
ensemblrs80359748
gopubmedrs80359748
geneviewrs80359748
scholarrs80359748
googlers80359748
pharmgkbrs80359748
gwascentralrs80359748
openSNPrs80359748
23andMers80359748
23andMe allrs80359748
SNP Nexus

SNPshotrs80359748
SNPdbers80359748
MSV3drs80359748
GWAS Ctlgrs80359748
Max Magnitude6
rs80359748, also known as 9327delTC, c.9099_9100delTC and p.Thr3033_Gln3034ThrValfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359748(;)
Alt rs80359748(;)
Reference rs80359748(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.32954032_32954033delTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045713.2, RCV000114046.1,