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rs80357587

From SNPedia

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


Make rs80357587(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094649
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357587
ebirs80357587
HLIrs80357587
Exacrs80357587
Varsomers80357587
Maprs80357587
PheGenIrs80357587
hapmaprs80357587
1000 genomesrs80357587
hgdprs80357587
ensemblrs80357587
gopubmedrs80357587
geneviewrs80357587
scholarrs80357587
googlers80357587
pharmgkbrs80357587
gwascentralrs80357587
openSNPrs80357587
23andMers80357587
23andMe allrs80357587
SNP Nexus

SNPshotrs80357587
SNPdbers80357587
MSV3drs80357587
GWAS Ctlgrs80357587
Max Magnitude6
rs80357587, also known as 1001delA, c.882_882delA and p.Lys294=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357587(;)
Alt rs80357587(;)
Reference rs80357587(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246666delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111490.1,