Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Pro299His (p.P299H)
(
ENST00000299766.5 )
MC4R p.Pro299His (p.P299H) ( ENST00000299766.5 ) - Associated Disease
- Obesity due to melanocortin 4 receptor deficiency
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.896C>A (p.Pro299His) AND Obesity due to melanocortin 4 receptor deficiency
- ClinVar Allele ID
- 45150
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.896C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-03-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004017271
- ClinVar Disease
- Obesity due to melanocortin 4 receptor deficiency
- Observed Origin Sample
- germline
Drugs