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rs80357628

From SNPedia

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


Make rs80357628(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094756
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357628
dbSNP (old)rs80357628
ClinGenrs80357628
ebirs80357628
HLIrs80357628
Exacrs80357628
Gnomadrs80357628
Varsomers80357628
Maprs80357628
PheGenIrs80357628
Biobankrs80357628
1000 genomesrs80357628
hgdprs80357628
ensemblrs80357628
gopubmedrs80357628
geneviewrs80357628
scholarrs80357628
googlers80357628
pharmgkbrs80357628
gwascentralrs80357628
openSNPrs80357628
23andMers80357628
23andMe allrs80357628
SNP Nexus

SNPshotrs80357628
SNPdbers80357628
MSV3drs80357628
GWAS Ctlgrs80357628
Max Magnitude6
rs80357628, also known as 894delG, c.775_775delG and p.Glu259Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357628(-;-)
Alt rs80357628(-;-)
Reference Rs80357628(G;G)
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.41246773delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049128.2, RCV000112785.2,