rs387907021

This is a variant in the DNAL1 gene that changes a asparagine to an serine.

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ClinVar annotation

Pathogenic
3 submitters3 publications

Kartagener syndrome (CILD1); Primary ciliary dyskinesia 16

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About DNAL1

This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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