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rs80357876

From SNPedia

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


Make rs80357876(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092591
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357876
ebirs80357876
HLIrs80357876
Exacrs80357876
Varsomers80357876
Maprs80357876
PheGenIrs80357876
hapmaprs80357876
1000 genomesrs80357876
hgdprs80357876
ensemblrs80357876
gopubmedrs80357876
geneviewrs80357876
scholarrs80357876
googlers80357876
pharmgkbrs80357876
gwascentralrs80357876
openSNPrs80357876
23andMers80357876
23andMe allrs80357876
SNP Nexus

SNPshotrs80357876
SNPdbers80357876
MSV3drs80357876
GWAS Ctlgrs80357876
Max Magnitude6
rs80357876, also known as 3059delA, c.2940_2940delA and p.Ile980=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357876(;)
Alt rs80357876(;)
Reference rs80357876(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41244608delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077120.5, RCV000130182.2, RCV000206597.2, RCV000236676.1,