Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Ile303Ser (p.I303S)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Ile303Ser (p.I303S) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- ClinVar
- Description
- NM_000455.4(STK11):c.908T>G (p.Ile303Ser) AND Peutz-Jeghers syndrome
- ClinVar Allele ID
- 177033
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002514964
- ClinVar Disease
- Peutz-Jeghers syndrome
- Observed Origin Sample
- germline
Drugs