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rs80357793

From SNPedia

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


Make rs80357793(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093321
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357793
ebirs80357793
HLIrs80357793
Exacrs80357793
Varsomers80357793
Maprs80357793
PheGenIrs80357793
hapmaprs80357793
1000 genomesrs80357793
hgdprs80357793
ensemblrs80357793
gopubmedrs80357793
geneviewrs80357793
scholarrs80357793
googlers80357793
pharmgkbrs80357793
gwascentralrs80357793
openSNPrs80357793
23andMers80357793
23andMe allrs80357793
SNP Nexus

SNPshotrs80357793
SNPdbers80357793
MSV3drs80357793
GWAS Ctlgrs80357793
Max Magnitude6
rs80357793, also known as 2329delC, c.2210_2210delC and p.Thr737Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357793(;)
Alt rs80357793(;)
Reference rs80357793(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.41245338delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047760.2, RCV000111793.1,