Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ile251Leu (p.I251L)
(
ENST00000299766.5 )
MC4R p.Ile251Leu (p.I251L) ( ENST00000299766.5 ) - Associated Disease
- Monogenic diabetes
- Source Database
- ClinVar
- Description
- NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) AND Monogenic diabetes
- ClinVar Allele ID
- 215036
- ClinVar RefSeq Alternation Syntax
- NM_005912.3:c.751A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-01-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000445524
- ClinVar Disease
- Monogenic diabetes
- Observed Origin Sample
- unknown
Drugs