RHPN1
Chr 8rhophilin Rho GTPase binding protein 1
Also known as: ODF5, RHOPHILIN, RHPN
RHPN1 encodes a protein that serves as a target for Rho signaling and interacts with cytoskeletal components to regulate stress fiber assembly and focal adhesion formation. Mutations cause autosomal recessive nephronophthisis with retinal dystrophy, typically presenting in childhood with progressive kidney disease and vision loss. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
257 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 | 55 | 0 | 55 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 142 | 10 | 0 | 152 |
Likely Benign | 0 | 13 | 1 | 2 | 16 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 155 | 71 | 2 | 228 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RHPN1 · 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