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rs80359700

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 rs80359700(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363439
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359700
ebirs80359700
HLIrs80359700
Exacrs80359700
Varsomers80359700
Maprs80359700
PheGenIrs80359700
hapmaprs80359700
1000 genomesrs80359700
hgdprs80359700
ensemblrs80359700
gopubmedrs80359700
geneviewrs80359700
scholarrs80359700
googlers80359700
pharmgkbrs80359700
gwascentralrs80359700
openSNPrs80359700
23andMers80359700
23andMe allrs80359700
SNP Nexus

SNPshotrs80359700
SNPdbers80359700
MSV3drs80359700
GWAS Ctlgrs80359700
Max Magnitude6
rs80359700, also known as 8465delCA, c.8237_8238delCA and p.Thr2746Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359700(;)
Alt rs80359700(;)
Reference rs80359700(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.32937576_32937577delCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045459.2, RCV000113894.1,