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rs80359374

From SNPedia

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


Make rs80359374(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337544
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359374
ebirs80359374
HLIrs80359374
Exacrs80359374
Varsomers80359374
Maprs80359374
PheGenIrs80359374
hapmaprs80359374
1000 genomesrs80359374
hgdprs80359374
ensemblrs80359374
gopubmedrs80359374
geneviewrs80359374
scholarrs80359374
googlers80359374
pharmgkbrs80359374
gwascentralrs80359374
openSNPrs80359374
23andMers80359374
23andMe allrs80359374
SNP Nexus

SNPshotrs80359374
SNPdbers80359374
MSV3drs80359374
GWAS Ctlgrs80359374
Max Magnitude6
rs80359374, also known as 3417del4, c.3189_3192delGTCA and p.Gln1063_Ser1064?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359374(;)
Alt rs80359374(;)
Reference rs80359374(TCAG;TCAG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not specified
Reversed 0
HGVS NC_000013.10:g.32911681_32911684delGTCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044142.2, RCV000113143.1, RCV000238980.1,