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rs80357551

From SNPedia

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


Make rs80357551(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099829
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357551
ebirs80357551
HLIrs80357551
Exacrs80357551
Varsomers80357551
Maprs80357551
PheGenIrs80357551
hapmaprs80357551
1000 genomesrs80357551
hgdprs80357551
ensemblrs80357551
gopubmedrs80357551
geneviewrs80357551
scholarrs80357551
googlers80357551
pharmgkbrs80357551
gwascentralrs80357551
openSNPrs80357551
23andMers80357551
23andMe allrs80357551
SNP Nexus

SNPshotrs80357551
SNPdbers80357551
MSV3drs80357551
GWAS Ctlgrs80357551
Max Magnitude6
rs80357551, also known as 612delC, c.493_493delC and p.Leu165Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357551(;)
Alt rs80357551(;)
Reference rs80357551(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.41251846delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048701.2, RCV000112719.1,