Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Journal of medical genetics - 1 Apr 2017

Leigh Sarah, Futema Marta, Whittall Ros, Taylor-Beadling Alison, Williams Maggie, den Dunnen Johan T, Humphries Steve E

Abstract excerpt

BACKGROUND: Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor (LDLR) gene. Predicting whether novel variants are pathogenic may not be straightforward, especially for missense and synonymous variants. In 2013, the Association of Clinical Genetic Scientists published guidelines for the classification of variants, with categories 1 and 2...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Databases, Genetic
Share to LDLR gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Hyperlipoproteinemia Type II

Share to Mutation, Missense

Share to Phenotype

Share to Promoter Regions, Genetic

Share to Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 27821657
DOI: 10.1136/jmedgenet-2016-104054
PMCID: PMC5502305

Genes

LDLR

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.PMID 27821657Read ↗

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.Semantic proximity Read ↗

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia DatabaseSemantic proximity Read ↗

Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.Semantic proximity Read ↗

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis.Semantic proximity Read ↗

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.Semantic proximity Read ↗

Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.Semantic proximity Read ↗

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.Semantic proximity Read ↗

Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.Semantic proximity Read ↗

Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.Semantic proximity Read ↗

Determination of the clinical significance of an unclassified variant.Semantic proximity Read ↗

Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.