Annotation Detail
Information
- Associated Genes
- LEPR
- Associated Variants
-
LEPR p.Gln223Arg (p.Q223R)
(
ENST00000344610.12,
ENST00000371058.1,
ENST00000371060.7,
ENST00000616738.4,
ENST00000371059.7,
ENST00000349533.11 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 ) - Associated Disease
- LEPTIN RECEPTOR POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) AND LEPTIN RECEPTOR POLYMORPHISM
- ClinVar Allele ID
- 23560
- ClinVar RefSeq Alternation Syntax
- NM_001003679.3:c.668A>G
- ClinVar RefSeq Alternation Syntax
- NM_001198689.2:c.668A>G
- ClinVar RefSeq Alternation Syntax
- NM_001198688.1:c.668A>G
- ClinVar RefSeq Alternation Syntax
- NM_001003680.3:c.668A>G
- ClinVar RefSeq Alternation Syntax
- NM_001198687.2:c.668A>G
- ClinVar RefSeq Alternation Syntax
- NM_002303.6:c.668A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2007-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009047
- ClinVar Disease
- LEPTIN RECEPTOR POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 17785359
- Pubmed
- 11354636
- Pubmed
- 11443193
- Pubmed
- 8666155
- Pubmed
- 21393862
- Pubmed
- 22331430
Drugs