Annotation Detail

Information
Associated Genes
STK11
Associated Variants
STK11 p.Arg304Trp (p.R304W) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Arg304Trp (p.R304W) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) AND not provided
ClinVar Allele ID
185520
ClinVar RefSeq Alternation Syntax
NM_000455.5:c.910C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2022-05-03
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000256082
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs