CHORDC1
Chr 11cysteine and histidine rich domain containing 1
Also known as: CHP1
The CHORDC1 protein functions as a co-chaperone for HSP90 and regulates centrosome duplication by inhibiting ROCK2 kinase activity, while also ensuring proper localization of EGFR to the plasma membrane. Mutations cause autosomal recessive scoliosis with intellectual disability, typically presenting in childhood with progressive spinal curvature and developmental delays. The gene is highly constrained against loss-of-function variants (pLI = 0.90, LOEUF = 0.38), indicating intolerance to haploinsufficiency in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
76 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 | 16 | 0 | 16 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 35 | 8 | 0 | 43 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 35 | 27 | 0 | 62 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CHORDC1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools