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rs80359415

From SNPedia

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


Make rs80359415(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338266
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359415
ebirs80359415
HLIrs80359415
Exacrs80359415
Varsomers80359415
Maprs80359415
PheGenIrs80359415
hapmaprs80359415
1000 genomesrs80359415
hgdprs80359415
ensemblrs80359415
gopubmedrs80359415
geneviewrs80359415
scholarrs80359415
googlers80359415
pharmgkbrs80359415
gwascentralrs80359415
openSNPrs80359415
23andMers80359415
23andMe allrs80359415
SNP Nexus

SNPshotrs80359415
SNPdbers80359415
MSV3drs80359415
GWAS Ctlgrs80359415
Max Magnitude6
rs80359415, also known as 4139delC, c.3911_3911delC and p.Thr1304Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359415(;)
Alt rs80359415(;)
Reference rs80359415(C;C)
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.32912403delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044306.2, RCV000113240.1,