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rs80357890

From SNPedia

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


Make rs80357890(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092641
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357890
ebirs80357890
HLIrs80357890
Exacrs80357890
Varsomers80357890
Maprs80357890
PheGenIrs80357890
hapmaprs80357890
1000 genomesrs80357890
hgdprs80357890
ensemblrs80357890
gopubmedrs80357890
geneviewrs80357890
scholarrs80357890
googlers80357890
pharmgkbrs80357890
gwascentralrs80357890
openSNPrs80357890
23andMers80357890
23andMe allrs80357890
SNP Nexus

SNPshotrs80357890
SNPdbers80357890
MSV3drs80357890
GWAS Ctlgrs80357890
Max Magnitude6
rs80357890, also known as 3008delTG, c.2889_2890delTG and p.Thr963_Gly964ThrThrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357890(;)
Alt rs80357890(;)
Reference rs80357890(TG;TG)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244658_41244659delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111958.1,