Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Glu61Lys (p.E61K)
(
ENST00000299766.5 )
MC4R p.Glu61Lys (p.E61K) ( ENST00000299766.5 ) - Associated Disease
- MC4R-related disorder
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) AND MC4R-related disorder
- ClinVar Allele ID
- 430078
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.181G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003409697
- ClinVar Disease
- MC4R-related disorder
- Observed Origin Sample
- germline
Drugs