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DNALI1

Synonyms
P28, dJ423B22.5, hp28
External resources
Summary
This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,873
Likely benign
1,288
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DNALI1 gene.

Phenotype class
Patients in 3billion (%)

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