rs1594603805

This variant is located in the DNAAF2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication

Primary ciliary dyskinesia

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About DNAAF2

This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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