HNRNPH1
Chr 5ADheterogeneous nuclear ribonucleoprotein H1
Also known as: HNRPH, HNRPH1, NEDCDS, hnRNPH
HNRNPH1 encodes a heterogeneous nuclear ribonucleoprotein that binds RNA and regulates pre-mRNA alternative splicing, serving as a component of hnRNP complexes that process pre-mRNAs before they become functional cytoplasmic mRNAs. Mutations cause autosomal dominant neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.11), indicating intolerance to reduced gene dosage.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
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
HNRNPH1 · 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
Building Resilience at Schools: Emotional and Biological Assessment and Treatment of Traumatic Stress
RECRUITINGLongitudinal Study of Neurogenetic Disorders
RECRUITINGExternal Resources
Links to major genomics databases and tools