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rs80359742

From SNPedia

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


Make rs80359742(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379823
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359742
ebirs80359742
HLIrs80359742
Exacrs80359742
Varsomers80359742
Maprs80359742
PheGenIrs80359742
hapmaprs80359742
1000 genomesrs80359742
hgdprs80359742
ensemblrs80359742
gopubmedrs80359742
geneviewrs80359742
scholarrs80359742
googlers80359742
pharmgkbrs80359742
gwascentralrs80359742
openSNPrs80359742
23andMers80359742
23andMe allrs80359742
SNP Nexus

SNPshotrs80359742
SNPdbers80359742
MSV3drs80359742
GWAS Ctlgrs80359742
Max Magnitude6
rs80359742, also known as 9255delT, c.9027_9027delT and p.Tyr3009=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359742(;)
Alt rs80359742(;)
Reference rs80359742(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.32953960delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045693.2, RCV000114033.1,