Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Gly181Asp (p.G181D)
(
ENST00000299766.5 )
MC4R p.Gly181Asp (p.G181D) ( ENST00000299766.5 ) - Associated Disease
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.542G>A (p.Gly181Asp) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- ClinVar Allele ID
- 964501
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.542G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-07-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001253592
- ClinVar Disease
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs