Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Ala2034Val (p.A2034V)
(
ENST00000361445.9,
ENST00000703140.1 )
MTOR p.Ala2034Val (p.A2034V) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004958.4(MTOR):c.6101C>T (p.Ala2034Val) AND not provided
- ClinVar Allele ID
- 921572
- ClinVar RefSeq Alternation Syntax
- NM_004958.4:c.6101C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-06-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001219594
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs