Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Tyr287Ter (p.Y287*)
(
ENST00000299766.5 )
MC4R p.Tyr287Ter (p.Y287*) ( ENST00000299766.5 ) - Associated Disease
- Obesity due to melanocortin 4 receptor deficiency
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) AND Obesity due to melanocortin 4 receptor deficiency
- ClinVar Allele ID
- 29371
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.861T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-09-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004017250
- ClinVar Disease
- Obesity due to melanocortin 4 receptor deficiency
- Observed Origin Sample
- germline
Drugs