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rs80357652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357652(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093694
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357652
ebirs80357652
HLIrs80357652
Exacrs80357652
Varsomers80357652
Maprs80357652
PheGenIrs80357652
hapmaprs80357652
1000 genomesrs80357652
hgdprs80357652
ensemblrs80357652
gopubmedrs80357652
geneviewrs80357652
scholarrs80357652
googlers80357652
pharmgkbrs80357652
gwascentralrs80357652
openSNPrs80357652
23andMers80357652
23andMe allrs80357652
SNP Nexus

SNPshotrs80357652
SNPdbers80357652
MSV3drs80357652
GWAS Ctlgrs80357652
Max Magnitude6
rs80357652, also known as 1956delA, c.1837_1837delA and p.Arg613Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357652(;)
Alt rs80357652(;)
Reference rs80357652(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245711delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047606.2, RCV000111697.1,