Annotation Detail

Information
Associated Genes
MC4R
Associated Variants
MC4R p.Val103Ile (p.V103I) ( ENST00000299766.5 )
MC4R p.Val103Ile (p.V103I) ( ENST00000299766.5 )
Associated Disease
OBESITY, RESISTANCE TO
Source Database
ClinVar
Description
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND OBESITY, RESISTANCE TO
ClinVar Allele ID
215037
ClinVar RefSeq Alternation Syntax
NM_005912.3:c.307G>A
Clinical Significance Description
protective
Clinical Significance Last Update
1999-04-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000768672
ClinVar Disease
OBESITY, RESISTANCE TO
Observed Origin Sample
germline
Pubmed
14973783
Pubmed
31002796
Pubmed
9267995
Pubmed
15805150
Pubmed
10199800
Pubmed
10078568
Drugs