Annotation Detail

Information
Associated Genes
LEP LOC106728418
Associated Variants
LEP c.-39G>A ( ENST00000308868.5 )
LEP c.-39G>A ( ENST00000308868.5 )
Associated Disease
Obesity due to congenital leptin deficiency
Source Database
ClinVar
Description
NM_000230.3(LEP):c.-39G>A AND Obesity due to congenital leptin deficiency
ClinVar Allele ID
301785
ClinVar RefSeq Alternation Syntax
NM_000230.3:c.-39G>A
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2016-06-14
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000329981
ClinVar Disease
Obesity due to congenital leptin deficiency
Observed Origin Sample
germline
Drugs