L8* (p.Leu8Ter) variant of LDLR (Low-density lipoprotein receptor)
L8* (p.Leu8Ter) 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.
L8* (p.Leu8Ter) variant details
- p.Leu8Ter
- rs2515907293
- ClinGen CA404071404
- ClinVar RCV004280081
- ClinVar RCV006634834
- 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)