Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Glu57Ter (p.E57*)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Glu57Ter (p.E57*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- ClinVar
- Description
- NM_000455.5(STK11):c.169G>T (p.Glu57Ter) AND Peutz-Jeghers syndrome
- ClinVar Allele ID
- 22486
- ClinVar RefSeq Alternation Syntax
- NM_000455.5:c.169G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-05-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007873
- ClinVar Disease
- Peutz-Jeghers syndrome
- Observed Origin Sample
- germline
- Pubmed
- 9428765
Drugs