Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Glu1799Lys (p.E1799K)
(
ENST00000361445.9,
ENST00000703140.1 )
MTOR p.Glu1799Lys (p.E1799K) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- intellectual disability
- Source Database
- ClinVar
- Description
- NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND Intellectual disability
- ClinVar Allele ID
- 214480
- ClinVar RefSeq Alternation Syntax
- NM_004958.4:c.5395G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-08-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001544505
- ClinVar Disease
- Intellectual disability
- Observed Origin Sample
- de novo
Drugs