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rs80359569

From SNPedia

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


Make rs80359569(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340593
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359569
ebirs80359569
HLIrs80359569
Exacrs80359569
Varsomers80359569
Maprs80359569
PheGenIrs80359569
hapmaprs80359569
1000 genomesrs80359569
hgdprs80359569
ensemblrs80359569
gopubmedrs80359569
geneviewrs80359569
scholarrs80359569
googlers80359569
pharmgkbrs80359569
gwascentralrs80359569
openSNPrs80359569
23andMers80359569
23andMe allrs80359569
SNP Nexus

SNPshotrs80359569
SNPdbers80359569
MSV3drs80359569
GWAS Ctlgrs80359569
Max Magnitude6
rs80359569, also known as 6466delT, c.6238_6238delT and p.Leu2080Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359569(;)
Alt rs80359569(;)
Reference rs80359569(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.32914730delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044877.2, RCV000113553.1,