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rs80359510

From SNPedia

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


Make rs80359510(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326520
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359510
ebirs80359510
HLIrs80359510
Exacrs80359510
Varsomers80359510
Maprs80359510
PheGenIrs80359510
hapmaprs80359510
1000 genomesrs80359510
hgdprs80359510
ensemblrs80359510
gopubmedrs80359510
geneviewrs80359510
scholarrs80359510
googlers80359510
pharmgkbrs80359510
gwascentralrs80359510
openSNPrs80359510
23andMers80359510
23andMe allrs80359510
SNP Nexus

SNPshotrs80359510
SNPdbers80359510
MSV3drs80359510
GWAS Ctlgrs80359510
Max Magnitude6
rs80359510, also known as 766delAT, c.538_539delAT and p.Ile180Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359510(;)
Alt rs80359510(;)
Reference rs80359510(AT;AT)
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.32900657_32900658delAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044647.2, RCV000113760.1,