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rs80359696

From SNPedia

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


Make rs80359696(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363332
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359696
ebirs80359696
HLIrs80359696
Exacrs80359696
Varsomers80359696
Maprs80359696
PheGenIrs80359696
hapmaprs80359696
1000 genomesrs80359696
hgdprs80359696
ensemblrs80359696
gopubmedrs80359696
geneviewrs80359696
scholarrs80359696
googlers80359696
pharmgkbrs80359696
gwascentralrs80359696
openSNPrs80359696
23andMers80359696
23andMe allrs80359696
SNP Nexus

SNPshotrs80359696
SNPdbers80359696
MSV3drs80359696
GWAS Ctlgrs80359696
Max Magnitude6
rs80359696, also known as 8358delT, c.8130_8130delT and p.Ser2710Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359696(;)
Alt rs80359696(;)
Reference rs80359696(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.32937469delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045426.2, RCV000113874.1,