rs542057474

This variant is located in the DNAH8 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Primary ciliary dyskinesia; not specified

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About DNAH8

The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

View all DNAH8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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