Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Ser2215Tyr (p.S2215Y)
(
ENST00000361445.9,
ENST00000703140.1 )
MTOR p.Ser2215Tyr (p.S2215Y) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- Isolated focal cortical dysplasia type II
- Source Database
- ClinVar
- Description
- NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Isolated focal cortical dysplasia type II
- ClinVar Allele ID
- 363008
- ClinVar RefSeq Alternation Syntax
- NM_004958.4:c.6644C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000477715
- ClinVar Disease
- Isolated focal cortical dysplasia type II
- Observed Origin Sample
- somatic
- Pubmed
- 27159400
- Pubmed
- 27830187
- Pubmed
- 26018084
Drugs