Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Asp194= (p.D194=)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Asp194= (p.D194=) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- ClinVar
- Description
- NM_000455.5(STK11):c.582C>T (p.Asp194=) AND Peutz-Jeghers syndrome
- ClinVar Allele ID
- 2150947
- ClinVar RefSeq Alternation Syntax
- NR_176325.1:n.1849C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407255.1:c.582C>T
- ClinVar RefSeq Alternation Syntax
- NM_000455.5:c.582C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-03-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003026008
- ClinVar Disease
- Peutz-Jeghers syndrome
- Observed Origin Sample
- germline
Drugs