COL24A1
Chr 1collagen type XXIV alpha 1 chain
This gene encodes a collagen family member that regulates type I collagen fibrillogenesis during fetal development. Mutations cause craniosynostosis, midfacial hypoplasia, foot abnormalities, and intellectual disability syndrome, which follows an autosomal dominant inheritance pattern. The gene is not highly constrained against loss-of-function variants, and the associated disorder primarily affects craniofacial development and cognitive function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COL24A1 · 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