ODAD4
outer dynein arm docking complex subunit 4
Summary
This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs782235908 | 17:40,086,993 | G/T | — | uncertain significance |
| rs199737978 | 17:40,087,055 | G/A | — | uncertain significance |
| rs35455419 | 17:40,090,003 | A/G | upstream gene variant | — |
| rs1197824633 | 17:40,091,493 | C/A | — | uncertain significance |
| rs782594989 | 17:40,091,513 | G/A | — | uncertain significance |
| rs78504838 | 17:40,091,616 | G/A | — | benign |
| rs367818261 | 17:40,091,877 | T/G | — | uncertain significance |
| rs75504508 | 17:40,091,915 | T/C | — | likely benign |
| rs868938106 | 17:40,091,921 | C/T | — | likely pathogenic |
| rs781926645 | 17:40,091,945 | C/T | — | uncertain significance |
| rs34520854 | 17:40,091,946 | G/A | — | uncertain significance |
| rs782012563 | 17:40,091,985 | T/C | — | uncertain significance |
| rs1555637675 | 17:40,092,003 | G/A | — | likely pathogenic |
| rs886037889 | 17:40,092,753 | — | — | pathogenic |
| rs2544708553 | 17:40,092,756 | G/A | — | uncertain significance |
| rs375976105 | 17:40,092,761 | C/T | — | uncertain significance |
| rs782657253 | 17:40,092,785 | G/A | — | uncertain significance |
| rs1555637830 | 17:40,092,788 | G/A | — | pathogenic |
| rs782030532 | 17:40,093,090 | G/T | — | likely benign |
| rs370238675 | 17:40,093,110 | G/T | — | uncertain significance |
| rs3809878 | 17:40,094,835 | C/T | — | benign |
| rs549565054 | 17:40,094,922 | C/T | — | likely benign |
| rs781793562 | 17:40,094,938 | C/T | — | uncertain significance |
| rs2544712075 | 17:40,094,953 | G/C | — | uncertain significance |
| rs782247851 | 17:40,094,966 | G/A | — | uncertain significance |
| rs184013464 | 17:40,094,977 | C/T | — | uncertain significance |
| rs782026883 | 17:40,094,978 | G/A | — | uncertain significance |
| rs781866287 | 17:40,094,985 | C/T | — | likely benign |
| rs781999941 | 17:40,095,286 | T/A | — | uncertain significance |
| rs62076888 | 17:40,103,698 | T/A | — | — |
| rs144272262 | 17:40,107,304 | G/A | — | likely benign |
| rs9900219 | 17:40,115,017 | G/T | — | — |
| rs8080978 | 17:40,116,817 | C/T | — | benign |
| rs8080979 | 17:40,116,819 | C/G | — | benign |
| rs782254368 | 17:40,117,112 | G/T | — | likely pathogenic |
| rs184299114 | 17:40,117,284 | T/C | — | likely benign |
| rs2544744423 | 17:40,117,400 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.