Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Arg165Trp (p.R165W)
(
ENST00000299766.5 )
MC4R p.Arg165Trp (p.R165W) ( ENST00000299766.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) AND not provided
- ClinVar Allele ID
- 1274588
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.493C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001700559
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs