Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Val50Met (p.V50M)
(
ENST00000299766.5 )
MC4R p.Val50Met (p.V50M) ( ENST00000299766.5 ) - Associated Disease
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.148G>A (p.Val50Met) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- ClinVar Allele ID
- 29359
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.148G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015396
- ClinVar Disease
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Observed Origin Sample
- germline
- Pubmed
- 11487744
- Pubmed
- 31002796
Drugs