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 specified
Source Database
ClinVar
Description
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) AND not specified
ClinVar Allele ID
45148
ClinVar RefSeq Alternation Syntax
NM_005912.3:c.806T>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2019-01-25
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000499660
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs