Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Ser240LeufsTer46 (p.S240Lfs*46)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Ser240LeufsTer46 (p.S240Lfs*46) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- ClinVar
- Description
- NM_000455.5(STK11):c.718_721del (p.Ser240fs) AND Peutz-Jeghers syndrome
- ClinVar Allele ID
- 22480
- ClinVar RefSeq Alternation Syntax
- NM_000455.5:c.718_721del
- 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/RCV000007867
- ClinVar Disease
- Peutz-Jeghers syndrome
- Observed Origin Sample
- germline
- Pubmed
- 9425897
Drugs