rs190396675

This variant is located in the ANKH gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

Craniometaphyseal dysplasia, autosomal dominant; Chondrocalcinosis 2

About ANKH

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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