rs148885547

This variant is located in the DNAI2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

Primary ciliary dyskinesia; not provided; Primary ciliary dyskinesia 9

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About DNAI2

The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms 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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