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rs80357523

From SNPedia

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


Make rs80357523(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094696
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357523
ebirs80357523
HLIrs80357523
Exacrs80357523
Varsomers80357523
Maprs80357523
PheGenIrs80357523
hapmaprs80357523
1000 genomesrs80357523
hgdprs80357523
ensemblrs80357523
gopubmedrs80357523
geneviewrs80357523
scholarrs80357523
googlers80357523
pharmgkbrs80357523
gwascentralrs80357523
openSNPrs80357523
23andMers80357523
23andMe allrs80357523
SNP Nexus

SNPshotrs80357523
SNPdbers80357523
MSV3drs80357523
GWAS Ctlgrs80357523
Max Magnitude6
rs80357523, also known as 954delC, c.835_835delC and p.His279Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357523(;)
Alt rs80357523(;)
Reference rs80357523(C;C)
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.41246713delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049163.2, RCV000112799.1,