C39* (p.Cys39Ter) variant of LDLR (Low-density lipoprotein receptor)
C39* (p.Cys39Ter) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C39* (p.Cys39Ter) variant details
- p.Cys39Ter
- rs879254411
- ClinGen CA10584759
- ClinVar RCV000237239
- Ensembl rs879254411
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)