CANT1 Chromosome 17
Calcium activated nucleotidase 1
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What This Gene Does
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]
Associated Conditions (12)
Desbuquois dysplasia 1
CANT1-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Cervical cancer
Epiphyseal dysplasia
multiple
7
Multiple epiphyseal dysplasia
Joint dislocation
Short stature
Abnormality of the skeletal system
Key Variants
RS1023756732
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Desbuquois dysplasia 1
Health Risk
RS138754148
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Desbuquois dysplasia 1
Health Risk
RS140112462
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, CANT1-related disorder, Desbuquois dysplasia 1
Health Risk
RS140989921
Conflicting classifications of pathogenicity
Health Risk
RS142062082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144060377
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Malignant tumor of esophagus, Cervical cancer
Health Risk
RS145516713
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199516699
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Desbuquois dysplasia 1
Health Risk
RS200811852
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, CANT1-related disorder, Desbuquois dysplasia 1
Health Risk
RS201181440
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Epiphyseal dysplasia, multiple
Health Risk
RS2071085962
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Desbuquois dysplasia 1
Health Risk
RS2509812786
Conflicting classifications of pathogenicity
Desbuquois dysplasia 1, Epiphyseal dysplasia, multiple
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587776897 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Inborn genetic diseases, Desbuquois dysplasia 1 |
| RS587776898 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS587776951 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS748554497 | Health Risk | Pathogenic | — |
| RS751515174 | Health Risk | Pathogenic | — |
| RS767601069 | Health Risk | Pathogenic | — |
| RS774522276 | Health Risk | Pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS199762751 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS267606701 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, Inborn genetic diseases, Desbuquois dysplasia 1 |
| RS538543007 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, Epiphyseal dysplasia, multiple |
| RS587776895 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, CANT1-related disorder, Desbuquois dysplasia 1 |
| RS587776896 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, Epiphyseal dysplasia, multiple |
| RS752656397 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, Epiphyseal dysplasia, multiple |
| RS761853610 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, Epiphyseal dysplasia, multiple |
| RS763733217 | Health Risk | Pathogenic/Likely pathogenic | Epiphyseal dysplasia, multiple, 7 |
| RS773215035 | Health Risk | Pathogenic/Likely pathogenic | Desbuquois dysplasia 1, Desbuquois dysplasia 1 |