Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP c.*1720A>G
(
ENST00000308868.5 )
LEP c.*1720A>G ( ENST00000308868.5 ) - Associated Disease
- Obesity due to congenital leptin deficiency
- Source Database
- ClinVar
- Description
- NM_000230.3(LEP):c.*1720A>G AND Obesity due to congenital leptin deficiency
- ClinVar Allele ID
- 301816
- ClinVar RefSeq Alternation Syntax
- NM_000230.3:c.*1720A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000279850
- ClinVar Disease
- Obesity due to congenital leptin deficiency
- Observed Origin Sample
- germline
Drugs