Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Val103Ile (p.V103I)
(
ENST00000299766.5 )
MC4R p.Val103Ile (p.V103I) ( ENST00000299766.5 ) - Associated Disease
- MELANOCORTIN 4 RECEPTOR POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND MELANOCORTIN 4 RECEPTOR POLYMORPHISM
- ClinVar Allele ID
- 215037
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.307G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 1999-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000768671
- ClinVar Disease
- MELANOCORTIN 4 RECEPTOR POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 14973783
- Pubmed
- 31002796
- Pubmed
- 9267995
- Pubmed
- 15805150
- Pubmed
- 10199800
- Pubmed
- 10078568
Drugs