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rs80357987

From SNPedia

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


Make rs80357987(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091559
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357987
ebirs80357987
HLIrs80357987
Exacrs80357987
Varsomers80357987
Maprs80357987
PheGenIrs80357987
hapmaprs80357987
1000 genomesrs80357987
hgdprs80357987
ensemblrs80357987
gopubmedrs80357987
geneviewrs80357987
scholarrs80357987
googlers80357987
pharmgkbrs80357987
gwascentralrs80357987
openSNPrs80357987
23andMers80357987
23andMe allrs80357987
SNP Nexus

SNPshotrs80357987
SNPdbers80357987
MSV3drs80357987
GWAS Ctlgrs80357987
Max Magnitude6
rs80357987, also known as 4091delG, c.3972_3972delG and p.Met1324Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357987(;)
Alt rs80357987(;)
Reference rs80357987(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.41243576delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048396.2, RCV000112221.1,