Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Asp37Val (p.D37V)
(
ENST00000299766.5 )
MC4R p.Tyr35Ter (p.Y35*) ( ENST00000299766.5 )
MC4R p.Asp37Val (p.D37V) ( ENST00000299766.5 )
MC4R p.Tyr35Ter (p.Y35*) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.[105C>A;110A>T] AND Obesity
- ClinVar Allele ID
- 29358
- ClinVar Allele ID
- 29357
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.105C>A
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.110A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001174507
- ClinVar Disease
- Obesity
- Observed Origin Sample
- germline
- Pubmed
- 10199800
Drugs