Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357642(-;-)
Make rs80357642(TT;TT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43124031
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357642
ebirs80357642
HLIrs80357642
Exacrs80357642
Varsomers80357642
Maprs80357642
PheGenIrs80357642
hapmaprs80357642
1000 genomesrs80357642
hgdprs80357642
ensemblrs80357642
gopubmedrs80357642
geneviewrs80357642
scholarrs80357642
googlers80357642
pharmgkbrs80357642
gwascentralrs80357642
openSNPrs80357642
23andMers80357642
23andMe allrs80357642
SNP Nexus

SNPshotrs80357642
SNPdbers80357642
MSV3drs80357642
GWAS Ctlgrs80357642
Max Magnitude6
rs80357642, also known as 184insTT, c.65_66insTT and p.Leu22?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357642(TT;TT)
Alt rs80357642(TT;TT)
Reference rs80357642(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276049_41276050dupAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000225464.2,