HNRNPR
Chr 1ADheterogeneous nuclear ribonucleoprotein R
Also known as: HNRPR, NEDDFSB, hnRNP-R
This gene encodes an RNA-binding protein that is a component of the spliceosome C complex and functions in pre-mRNA processing within ribonucleoprotein complexes. Mutations cause a neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.21), indicating that heterozygous variants are likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HNRNPR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGLongitudinal Study of Neurogenetic Disorders
RECRUITINGExternal Resources
Links to major genomics databases and tools