Annotation Detail

Information
Associated Genes
STK11
Associated Variants
STK11 p.Cys132= (p.C132=) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Cys132= (p.C132=) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_000455.5(STK11):c.396C>T (p.Cys132=) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
185478
ClinVar RefSeq Alternation Syntax
NM_000455.5:c.396C>T
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2020-07-02
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000163260
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs