Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 LOSS
(
ENST00000326873.12 )
STK11 LOSS ( ENST00000326873.12 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- CIViC Evidence
- Description
- In a series of 33 patients with Peutz-Jeghers Syndrome, 17 mutations in STK11/LKB1 were observed in exons 1-8 (none in exon 9). 11 of these mutations were predicted to be truncating. These mutations occurred in 10/13 patients with familial PJS and 7/20 patients with sporadic PJS.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1737
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5534
- Variant URL
- https://civic.genome.wustl.edu/links/variants/485
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Peutz-Jeghers Syndrome
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 12865922
Drugs