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rs80357922

From SNPedia

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


Make rs80357922(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093535
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357922
ebirs80357922
HLIrs80357922
Exacrs80357922
Varsomers80357922
Maprs80357922
PheGenIrs80357922
hapmaprs80357922
1000 genomesrs80357922
hgdprs80357922
ensemblrs80357922
gopubmedrs80357922
geneviewrs80357922
scholarrs80357922
googlers80357922
pharmgkbrs80357922
gwascentralrs80357922
openSNPrs80357922
23andMers80357922
23andMe allrs80357922
SNP Nexus

SNPshotrs80357922
SNPdbers80357922
MSV3drs80357922
GWAS Ctlgrs80357922
Max Magnitude6
rs80357922, also known as 2115delC, c.1996_1996delC and p.Leu666Tyrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357922(;)
Alt rs80357922(;)
Reference rs80357922(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.41245552delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047673.2, RCV000111747.1,