Q35* (p.Gln35Ter) variant of LDLR (Low-density lipoprotein receptor)

Name: LDLR Q35* (p.Gln35Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

Q35* (p.Gln35Ter) 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.

Q35* (p.Gln35Ter) variant details

p.Gln35Ter
rs879254408
ClinGen CA10584755
ClinVar RCV000237937
ClinVar RCV001036722
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Familial Hypercholesterolemia. (PMID 24404629)
Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)