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
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Source Database
- ClinVar
- Description
- NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- ClinVar Allele ID
- 363008
- ClinVar RefSeq Alternation Syntax
- NM_004958.4:c.6644C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-17
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001836814
- ClinVar Disease
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Observed Origin Sample
- germline
Drugs