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rs80359400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359400(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32316497
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359400
dbSNP (classic)rs80359400
ClinGenrs80359400
ebirs80359400
HLIrs80359400
Exacrs80359400
Gnomadrs80359400
Varsomers80359400
LitVarrs80359400
Maprs80359400
PheGenIrs80359400
Biobankrs80359400
1000 genomesrs80359400
hgdprs80359400
ensemblrs80359400
geneviewrs80359400
scholarrs80359400
googlers80359400
pharmgkbrs80359400
gwascentralrs80359400
openSNPrs80359400
23andMers80359400
SNPshotrs80359400
SNPdbers80359400
MSV3drs80359400
GWAS Ctlgrs80359400
Max Magnitude6

rs80359400, also known as 265insT, c.37_38insT and p.Glu13?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359400(T;T)
Alt rs80359400(T;T)
Reference Rs80359400(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32890634_32890635insT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113041.2,