Annotation Detail

Information
Associated Genes
MC4R
Associated Variants
MC4R p.Asp37Val (p.D37V) ( ENST00000299766.5 )
MC4R p.Asp37Val (p.D37V) ( ENST00000299766.5 )
Associated Disease
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
Source Database
ClinVar
Description
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
ClinVar Allele ID
29358
ClinVar RefSeq Alternation Syntax
NM_005912.3:c.110A>T
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2019-01-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001262822
ClinVar Disease
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
Observed Origin Sample
unknown
Drugs