Annotation Detail
Information
- Associated Genes
- LEPR
- Associated Variants
-
LEPR p.Pro1019= (p.P1019=)
(
ENST00000349533.11 )
LEPR p.Pro1019= (p.P1019=) ( ENST00000349533.11 ) - Associated Disease
- Obesity due to leptin receptor gene deficiency
- Source Database
- ClinVar
- Description
- NM_002303.6(LEPR):c.3057G>A (p.Pro1019=) AND Obesity due to leptin receptor gene deficiency
- ClinVar Allele ID
- 282947
- ClinVar RefSeq Alternation Syntax
- NM_002303.6:c.3057G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000280669
- ClinVar Disease
- Obesity due to leptin receptor gene deficiency
- Observed Origin Sample
- germline
Drugs