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rs80357982

From SNPedia

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


Make rs80357982(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093329
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357982
ebirs80357982
HLIrs80357982
Exacrs80357982
Varsomers80357982
Maprs80357982
PheGenIrs80357982
hapmaprs80357982
1000 genomesrs80357982
hgdprs80357982
ensemblrs80357982
gopubmedrs80357982
geneviewrs80357982
scholarrs80357982
googlers80357982
pharmgkbrs80357982
gwascentralrs80357982
openSNPrs80357982
23andMers80357982
23andMe allrs80357982
SNP Nexus

SNPshotrs80357982
SNPdbers80357982
MSV3drs80357982
GWAS Ctlgrs80357982
Max Magnitude6
rs80357982, also known as 2321delA, c.2202_2202delA and p.Lys734Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357982(;)
Alt rs80357982(;)
Reference rs80357982(A;A)
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.41245346delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047755.2, RCV000111791.1,