R29* (p.Arg29Ter) variant of LDLR (Low-density lipoprotein receptor)
R29* (p.Arg29Ter) 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.
R29* (p.Arg29Ter) variant details
- p.Arg29Ter
- rs879254401
- ClinGen CA10584747
- ClinVar RCV000238347
- Ensembl rs879254401
- 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)