Annotation Detail

Information
Associated Genes
STK11
Associated Variants
STK11 p.Ala206Val (p.A206V) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Ala206Val (p.A206V) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000455.5(STK11):c.617C>T (p.Ala206Val) AND not specified
ClinVar Allele ID
185496
ClinVar RefSeq Alternation Syntax
NM_000455.5:c.617C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-05-04
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002247563
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs