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rs80359564

From SNPedia

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


Make rs80359564(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340553
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359564
ebirs80359564
HLIrs80359564
Exacrs80359564
Varsomers80359564
Maprs80359564
PheGenIrs80359564
hapmaprs80359564
1000 genomesrs80359564
hgdprs80359564
ensemblrs80359564
gopubmedrs80359564
geneviewrs80359564
scholarrs80359564
googlers80359564
pharmgkbrs80359564
gwascentralrs80359564
openSNPrs80359564
23andMers80359564
23andMe allrs80359564
SNP Nexus

SNPshotrs80359564
SNPdbers80359564
MSV3drs80359564
GWAS Ctlgrs80359564
Max Magnitude6
rs80359564, also known as 6426delTT, c.6198_6199delTT and p.Val2066_Ser2067ValHisfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359564(;)
Alt rs80359564(;)
Reference rs80359564(TT;TT)
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.32914690_32914691delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044863.2, RCV000113542.1,