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rs80359740

From SNPedia

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


Make rs80359740(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379812
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359740
ebirs80359740
HLIrs80359740
Exacrs80359740
Varsomers80359740
Maprs80359740
PheGenIrs80359740
hapmaprs80359740
1000 genomesrs80359740
hgdprs80359740
ensemblrs80359740
gopubmedrs80359740
geneviewrs80359740
scholarrs80359740
googlers80359740
pharmgkbrs80359740
gwascentralrs80359740
openSNPrs80359740
23andMers80359740
23andMe allrs80359740
SNP Nexus

SNPshotrs80359740
SNPdbers80359740
MSV3drs80359740
GWAS Ctlgrs80359740
Max Magnitude6
rs80359740, also known as 9244delTA, c.9016_9017delTA and p.Tyr3006Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359740(;)
Alt rs80359740(;)
Reference rs80359740(AT;AT)
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.32953949_32953950delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045688.2, RCV000083152.4,