COL28A1
Chr 7collagen type XXVIII alpha 1 chain
Also known as: COL28
COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.29
OE 0.83 (0.67–1.04)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.88Z-score
OE missense 1.10 (1.03–1.17)
678 obs / 616.6 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.83 (0.67–1.04)
0≤0.351.4
Missense OE?1.10 (1.03–1.17)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 55 / 66.3Missense obs/exp: 678 / 616.6Syn Z: -1.79
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COL28A1 · 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