LONRF1
Chr 8LON peptidase N-terminal domain and ring finger 1
Also known as: RNF191
LONRF1 encodes a protein predicted to bind zinc ions and localize to the cytosol. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy, spasticity, and brain abnormalities. The gene shows significant constraint against loss-of-function variants (LOEUF 0.39), suggesting intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
228 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 83 | 0 | 83 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 109 | 8 | 0 | 117 |
Likely Benign | 0 | 6 | 3 | 1 | 10 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 115 | 100 | 1 | 216 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LONRF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools