rs373142760
This variant is located in the CANT1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout CANT1
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]
View all CANT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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