Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 c.734+1G>T
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 c.734+1G>T ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- ClinVar
- Description
- NM_000455.5(STK11):c.734+1G>T AND Peutz-Jeghers syndrome
- ClinVar Allele ID
- 151509
- ClinVar RefSeq Alternation Syntax
- NM_001407255.1:c.734+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_000455.5:c.734+1G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-02-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001849934
- ClinVar Disease
- Peutz-Jeghers syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs