Annotation Detail
Information
- Associated Genes
- LEPR
- Associated Variants
-
LEPR p.Lys656Asn (p.K656N)
(
ENST00000349533.11,
ENST00000616738.4,
ENST00000371059.7,
ENST00000371060.7,
ENST00000344610.12,
ENST00000371058.1 )
LEPR p.Lys656Asn (p.K656N) ( 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.1968G>C (p.Lys656Asn) AND LEPTIN RECEPTOR POLYMORPHISM
- ClinVar Allele ID
- 23563
- ClinVar RefSeq Alternation Syntax
- NM_001198689.2:c.1968G>C
- ClinVar RefSeq Alternation Syntax
- NM_001003679.3:c.1968G>C
- ClinVar RefSeq Alternation Syntax
- NM_001003680.3:c.1968G>C
- ClinVar RefSeq Alternation Syntax
- NM_002303.6:c.1968G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198687.2:c.1968G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198688.1:c.1968G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2001-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009050
- ClinVar Disease
- LEPTIN RECEPTOR POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 11443193
Drugs