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rs80357591

From SNPedia

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


Make rs80357591(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106489
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357591
ebirs80357591
HLIrs80357591
Exacrs80357591
Varsomers80357591
Maprs80357591
PheGenIrs80357591
hapmaprs80357591
1000 genomesrs80357591
hgdprs80357591
ensemblrs80357591
gopubmedrs80357591
geneviewrs80357591
scholarrs80357591
googlers80357591
pharmgkbrs80357591
gwascentralrs80357591
openSNPrs80357591
23andMers80357591
23andMe allrs80357591
SNP Nexus

SNPshotrs80357591
SNPdbers80357591
MSV3drs80357591
GWAS Ctlgrs80357591
Max Magnitude6
rs80357591, also known as 298delA, c.179_179delA and p.Gln60Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357591(;)
Alt rs80357591(;)
Reference rs80357591(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.41258506delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047589.2, RCV000083173.3,