Annotation Detail

Information
Associated Genes
LEPR
Associated Variants
LEPR p.Pro1019= (p.P1019=) ( ENST00000349533.11 )
LEPR p.Pro1019= (p.P1019=) ( ENST00000349533.11 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_002303.6(LEPR):c.3057G>A (p.Pro1019=) AND not specified
ClinVar Allele ID
282947
ClinVar RefSeq Alternation Syntax
NM_002303.6:c.3057G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2017-07-26
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000516559
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs