Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Cys1483Tyr (p.C1483Y)
(
ENST00000361445.9,
ENST00000703140.1 )
MTOR p.Cys1483Tyr (p.C1483Y) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- Source Database
- ClinVar
- Description
- NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) AND Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- ClinVar Allele ID
- 363332
- ClinVar RefSeq Alternation Syntax
- NM_004958.4:c.4448G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003992287
- ClinVar Disease
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- Observed Origin Sample
- de novo
Drugs