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rs80357734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357734(-;-)
Make rs80357734(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43106528
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357734
ebirs80357734
HLIrs80357734
Exacrs80357734
Varsomers80357734
Maprs80357734
PheGenIrs80357734
hapmaprs80357734
1000 genomesrs80357734
hgdprs80357734
ensemblrs80357734
gopubmedrs80357734
geneviewrs80357734
scholarrs80357734
googlers80357734
pharmgkbrs80357734
gwascentralrs80357734
openSNPrs80357734
23andMers80357734
23andMe allrs80357734
SNP Nexus

SNPshotrs80357734
SNPdbers80357734
MSV3drs80357734
GWAS Ctlgrs80357734
Max Magnitude6
rs80357734, also known as 258insT, c.139_140insT and p.Cys47?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357734(T;T)
Alt rs80357734(T;T)
Reference rs80357734(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41258546dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111869.1,