Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359265

From SNPedia

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


Make rs80359265(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332625
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359265
ebirs80359265
HLIrs80359265
Exacrs80359265
Varsomers80359265
Maprs80359265
PheGenIrs80359265
hapmaprs80359265
1000 genomesrs80359265
hgdprs80359265
ensemblrs80359265
gopubmedrs80359265
geneviewrs80359265
scholarrs80359265
googlers80359265
pharmgkbrs80359265
gwascentralrs80359265
openSNPrs80359265
23andMers80359265
23andMe allrs80359265
SNP Nexus

SNPshotrs80359265
SNPdbers80359265
MSV3drs80359265
GWAS Ctlgrs80359265
Max Magnitude6
rs80359265, also known as 1375delA, c.1147_1147delA and p.Ile383Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359265(;)
Alt rs80359265(;)
Reference rs80359265(A;A)
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.32906762delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043745.2, RCV000112884.1,