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rs80357574

From SNPedia

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


Make rs80357574(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093317
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357574
ebirs80357574
HLIrs80357574
Exacrs80357574
Varsomers80357574
Maprs80357574
PheGenIrs80357574
hapmaprs80357574
1000 genomesrs80357574
hgdprs80357574
ensemblrs80357574
gopubmedrs80357574
geneviewrs80357574
scholarrs80357574
googlers80357574
pharmgkbrs80357574
gwascentralrs80357574
openSNPrs80357574
23andMers80357574
23andMe allrs80357574
SNP Nexus

SNPshotrs80357574
SNPdbers80357574
MSV3drs80357574
GWAS Ctlgrs80357574
Max Magnitude6
rs80357574, also known as 2333delT, c.2214_2214delT and p.Val738=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357574(;)
Alt rs80357574(;)
Reference rs80357574(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245334delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111794.1,