Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Tyr253Ter (p.Y253*)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Tyr253Ter (p.Y253*) ( ENST00000714323.1, ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- ClinVar
- Description
- NM_000455.5(STK11):c.759C>A (p.Tyr253Ter) AND Peutz-Jeghers syndrome
- ClinVar Allele ID
- 22478
- ClinVar RefSeq Alternation Syntax
- NM_000455.5:c.759C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007865
- ClinVar Disease
- Peutz-Jeghers syndrome
- Observed Origin Sample
- germline
- Pubmed
- 9425897
Drugs