rs767828489

This variant is located in the PNKD gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Paroxysmal nonkinesigenic dyskinesia; Inborn genetic diseases

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About PNKD

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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