Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Tyr35Ter (p.Y35*)
(
ENST00000299766.5 )
MC4R p.Tyr35Ter (p.Y35*) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- ClinVar
- Description
- NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) AND Obesity
- ClinVar Allele ID
- 29357
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.105C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-01-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015394
- ClinVar Disease
- Obesity
- Observed Origin Sample
- germline
Drugs