Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ser127Leu (p.S127L)
(
ENST00000299766.5 )
MC4R p.Ser127Leu (p.S127L) ( ENST00000299766.5 ) - Associated Disease
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- ClinVar Allele ID
- 29375
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.380C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-02-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000768580
- ClinVar Disease
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 14764818
- Pubmed
- 12499395
- Pubmed
- 12970296
Drugs