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Article

The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.

Lipids in health and disease - 6 Apr 2020

Hori Mika, Takahashi Atsushi, Son Cheol, Ogura Masatsune, Harada-Shiba Mariko

Abstract excerpt

BACKGROUND: We previously identified the c.344G > A: p.(Arg115His) variant in the low-density lipoprotein receptor (LDLR) gene, which was interpreted as "conflicting interpretations of pathogenicity" in ClinVar, based on a genetic analysis of patients with familial hypercholesterolemia (FH). However, whether this variant affects the pathophysiology of FH remains unclear. Therefore, our aim was to annotate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

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Identifiers

PMID: 32252761
DOI: 10.1186/s12944-020-01252-4
PMCID: PMC7137240

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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