Annotation Detail
Information
- Associated Genes
- LEPR
- Associated Variants
-
LEPR p.Lys109Arg (p.K109R)
(
ENST00000344610.12,
ENST00000371058.1,
ENST00000371060.7,
ENST00000616738.4,
ENST00000371059.7,
ENST00000349533.11 )
LEPR p.Lys109Arg (p.K109R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 ) - Associated Disease
- Obesity due to leptin receptor gene deficiency
- Source Database
- ClinVar
- Description
- NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) AND Obesity due to leptin receptor gene deficiency
- ClinVar Allele ID
- 23562
- ClinVar RefSeq Alternation Syntax
- NM_001198687.2:c.326A>G
- ClinVar RefSeq Alternation Syntax
- NM_002303.6:c.326A>G
- ClinVar RefSeq Alternation Syntax
- NM_001003679.3:c.326A>G
- ClinVar RefSeq Alternation Syntax
- NM_001198688.1:c.326A>G
- ClinVar RefSeq Alternation Syntax
- NM_001003680.3:c.326A>G
- ClinVar RefSeq Alternation Syntax
- NM_001198689.2:c.326A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000309499
- ClinVar Disease
- Obesity due to leptin receptor gene deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs