rs1014317450

This is a variant in the CANT1 gene that changes a isoleucine to an phenylalanine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters2 publications

Epiphyseal dysplasia, multiple, 7; Multiple epiphyseal dysplasia

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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