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rs80359536

From SNPedia

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


Make rs80359536(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340133
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359536
dbSNP (classic)rs80359536
ClinGenrs80359536
ebirs80359536
HLIrs80359536
Exacrs80359536
Gnomadrs80359536
Varsomers80359536
LitVarrs80359536
Maprs80359536
PheGenIrs80359536
Biobankrs80359536
1000 genomesrs80359536
hgdprs80359536
ensemblrs80359536
geneviewrs80359536
scholarrs80359536
googlers80359536
pharmgkbrs80359536
gwascentralrs80359536
openSNPrs80359536
23andMers80359536
SNPshotrs80359536
SNPdbers80359536
MSV3drs80359536
GWAS Ctlgrs80359536
Max Magnitude6

rs80359536, also known as 6006delTG, c.5778_5779delTG and p.Ser1926_Glu1927ArgArgfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359536(-;-)
Alt rs80359536(-;-)
Reference Rs80359536(GT;GT)
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.32914270_32914271delTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044752.2, RCV000113483.3,