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rs80359293

From SNPedia

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


Make rs80359293(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333077
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359293
ebirs80359293
HLIrs80359293
Exacrs80359293
Varsomers80359293
Maprs80359293
PheGenIrs80359293
hapmaprs80359293
1000 genomesrs80359293
hgdprs80359293
ensemblrs80359293
gopubmedrs80359293
geneviewrs80359293
scholarrs80359293
googlers80359293
pharmgkbrs80359293
gwascentralrs80359293
openSNPrs80359293
23andMers80359293
23andMe allrs80359293
SNP Nexus

SNPshotrs80359293
SNPdbers80359293
MSV3drs80359293
GWAS Ctlgrs80359293
Max Magnitude6
rs80359293, also known as 1827delTG, c.1599_1600delTG and p.Thr533_Glu534ThrSerfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359293(;)
Alt rs80359293(;)
Reference rs80359293(TG;TG)
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.32907214_32907215delTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043840.2, RCV000112941.1,