CANT1
Chr 17ARcalcium activated nucleotidase 1
Also known as: DBQD, DBQD1, EDM7, SCAN-1, SCAN1, SHAPY
This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
464 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 | 25 | 4 | 1 | 0 | 30 |
Likely Pathogenic | 8 | 11 | 1 | 0 | 20 |
VUS | 2 | 109 | 46 | 2 | 159 |
Likely Benign | 0 | 7 | 40 | 146 | 193 |
Benign | 0 | 0 | 21 | 6 | 27 |
Conflicting | — | 27 | |||
| Total | 35 | 131 | 109 | 154 | 456 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →17 pathogenic / likely-pathogenic (of 29) ClinVar copy-number / structural variants overlap CANT1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
CANT1 · 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