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CANT1

Synonyms
DBQD, DBQD1, EDM7, SCAN-1, SCAN1, SHAPY
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
4
VUS
1,645
Likely benign
1,772
Benign
5

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on CANT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Abnormality of the endocrine system
13.3%
Abnormality of the musculoskeletal system
13.3%
Constitutional symptom
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of head or neck
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the voice
6.7%
Growth abnormality
6.7%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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