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rs80357923

From SNPedia

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


Make rs80357923(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092317
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357923
ebirs80357923
HLIrs80357923
Exacrs80357923
Varsomers80357923
Maprs80357923
PheGenIrs80357923
hapmaprs80357923
1000 genomesrs80357923
hgdprs80357923
ensemblrs80357923
gopubmedrs80357923
geneviewrs80357923
scholarrs80357923
googlers80357923
pharmgkbrs80357923
gwascentralrs80357923
openSNPrs80357923
23andMers80357923
23andMe allrs80357923
SNP Nexus

SNPshotrs80357923
SNPdbers80357923
MSV3drs80357923
GWAS Ctlgrs80357923
Max Magnitude6
rs80357923, also known as 3333delC, c.3214_3214delC and p.Leu1072Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357923(;)
Alt rs80357923(;)
Reference rs80357923(C;C)
Significance Untested
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.41244334delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048101.2, RCV000112030.1,