rs574438524

This variant is located in the DNAH5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Primary ciliary dyskinesia 3

About DNAH5

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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