3billion
back to listBack to List

CANT1

calcium activated nucleotidase 1

HCNC Approved Symbol
CANT1 (HGNC:19721)
Genomic Coordinates
17:78,991,716 - 79,009,764 (17q25.3)
Synonyms
SHAPY, SCAN-1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the CANT1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Abnormal facial shape
 2 (66.7%)
Abnormality of the hand
 2 (66.7%)
Asd
 2 (66.7%)
Atrial septal defect
 2 (66.7%)
Bilateral ulnar hypoplasia
 2 (66.7%)
CANT1 - Gene browser | 3billion