Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP p.Arg105Trp (p.R105W)
(
ENST00000308868.5 )
LEP p.Arg105Trp (p.R105W) ( ENST00000308868.5 ) - Associated Disease
- Obesity due to congenital leptin deficiency
- Source Database
- ClinVar
- Description
- NM_000230.3(LEP):c.313C>T (p.Arg105Trp) AND Obesity due to congenital leptin deficiency
- ClinVar Allele ID
- 29026
- ClinVar RefSeq Alternation Syntax
- NM_000230.3:c.313C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-03-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015024
- ClinVar Disease
- Obesity due to congenital leptin deficiency
- Observed Origin Sample
- germline
- Pubmed
- 15070752
- Pubmed
- 9500540
Drugs