Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ile269Asn (p.I269N)
(
ENST00000299766.5 )
MC4R p.Ile269Asn (p.I269N) ( ENST00000299766.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) AND not provided
- ClinVar Allele ID
- 45148
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.806T>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-15
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000906648
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs