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rs80359372

From SNPedia

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


Make rs80359372(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337522
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359372
ebirs80359372
HLIrs80359372
Exacrs80359372
Varsomers80359372
Maprs80359372
PheGenIrs80359372
hapmaprs80359372
1000 genomesrs80359372
hgdprs80359372
ensemblrs80359372
gopubmedrs80359372
geneviewrs80359372
scholarrs80359372
googlers80359372
pharmgkbrs80359372
gwascentralrs80359372
openSNPrs80359372
23andMers80359372
23andMe allrs80359372
SNP Nexus

SNPshotrs80359372
SNPdbers80359372
MSV3drs80359372
GWAS Ctlgrs80359372
Max Magnitude6
rs80359372, also known as 3395del4, c.3167_3170delAAAA and p.Gln1056_Lys1057?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359372(;)
Alt rs80359372(;)
Reference rs80359372(AAAA;AAAA)
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.32911659_32911662delAAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044135.3, RCV000113141.1,