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rs80359348

From SNPedia

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


Make rs80359348(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337153
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359348
ebirs80359348
HLIrs80359348
Exacrs80359348
Varsomers80359348
Maprs80359348
PheGenIrs80359348
hapmaprs80359348
1000 genomesrs80359348
hgdprs80359348
ensemblrs80359348
gopubmedrs80359348
geneviewrs80359348
scholarrs80359348
googlers80359348
pharmgkbrs80359348
gwascentralrs80359348
openSNPrs80359348
23andMers80359348
23andMe allrs80359348
SNP Nexus

SNPshotrs80359348
SNPdbers80359348
MSV3drs80359348
GWAS Ctlgrs80359348
Max Magnitude6
rs80359348, also known as 3026delCA, c.2798_2799delCA and p.Thr933Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359348(;)
Alt rs80359348(;)
Reference rs80359348(AC;AC)
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.32911290_32911291delCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044059.2, RCV000113092.1,