Annotation Detail
Information
- Associated Genes
- CNOT1
- Associated Variants
-
CNOT1 p.Gln973= (p.Q973=)
(
ENST00000441024.6,
ENST00000317147.10,
ENST00000569240.5 )
CNOT1 p.Gln973= (p.Q973=) ( ENST00000317147.10, ENST00000441024.6, ENST00000569240.5 ) - Associated Disease
- CNOT1-related disorder
- Source Database
- ClinVar
- Description
- NM_016284.5(CNOT1):c.2919G>A (p.Gln973=) AND CNOT1-related disorder
- ClinVar Allele ID
- 1207362
- ClinVar RefSeq Alternation Syntax
- NM_206999.3:c.2919G>A
- ClinVar RefSeq Alternation Syntax
- NM_001265612.2:c.2904G>A
- ClinVar RefSeq Alternation Syntax
- NM_016284.5:c.2919G>A
- ClinVar RefSeq Alternation Syntax
- NR_049763.2:n.3177G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003980731
- ClinVar Disease
- CNOT1-related disorder
- Observed Origin Sample
- germline
Drugs