COLGALT1
Chr 19ARcollagen beta(1-O)galactosyltransferase 1
Also known as: BSVD3, ColGalT 1, GLT25D1
This gene encodes a beta-galactosyltransferase that transfers galactose to hydroxylysine residues in type I and type IV collagen, facilitating collagen triple helix formation. Mutations cause autosomal recessive osteogenesis imperfecta, a connective tissue disorder affecting primarily bone and other collagen-rich tissues. The gene is not highly constrained against loss-of-function variants.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
352 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 | 3 | 3 | 9 | 0 | 15 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 3 | 178 | 22 | 0 | 203 |
Likely Benign | 0 | 3 | 33 | 55 | 91 |
Benign | 0 | 0 | 2 | 13 | 15 |
Conflicting | — | 5 | |||
| Total | 6 | 185 | 67 | 68 | 331 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COLGALT1 · 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