Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Asp194Glu (p.D194E)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Asp194Glu (p.D194E) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000455.5(STK11):c.582C>A (p.Asp194Glu) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 185491
- ClinVar RefSeq Alternation Syntax
- NM_000455.5:c.582C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-06-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000164794
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs