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rs80359571

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 rs80359571(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340625
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359571
ebirs80359571
HLIrs80359571
Exacrs80359571
Varsomers80359571
Maprs80359571
PheGenIrs80359571
hapmaprs80359571
1000 genomesrs80359571
hgdprs80359571
ensemblrs80359571
gopubmedrs80359571
geneviewrs80359571
scholarrs80359571
googlers80359571
pharmgkbrs80359571
gwascentralrs80359571
openSNPrs80359571
23andMers80359571
23andMe allrs80359571
SNP Nexus

SNPshotrs80359571
SNPdbers80359571
MSV3drs80359571
GWAS Ctlgrs80359571
Max Magnitude6
rs80359571, also known as 6498delTA, c.6270_6271delTA and p.His2090_Ser2091GlnSerfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359571(;)
Alt rs80359571(;)
Reference rs80359571(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.32914762_32914763delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044883.2, RCV000113557.1,