DNAAF3 Chromosome 19
Dynein axonemal assembly factor 3
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What This Gene Does
The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
Axonemal dynein assembly factors
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000167646
Associated Conditions (4)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 2
DNAAF3-related disorder
Sarcoma
Key Variants
RS1018709493
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS200365972
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS200673226
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 2, DNAAF3-related disorder
Health Risk
RS200775946
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAAF3-related disorder, Primary ciliary dyskinesia
Health Risk
RS200919669
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS200938793
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS201231901
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS201919395
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS201929981
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS201986299
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS371668705
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS372161739
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1018709493 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200365972 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200673226 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 2, DNAAF3-related disorder |
| RS200775946 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, DNAAF3-related disorder, Primary ciliary dyskinesia |
| RS200919669 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS200938793 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201231901 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201919395 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201929981 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS201986299 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS371668705 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS372161739 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS373489149 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS747311078 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS767677564 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 2, DNAAF3-related disorder |
| RS770306950 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS771361438 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS774136369 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS774308391 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS775837121 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS779990994 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1215112070 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1384651581 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1568865669 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2 |
| RS2147311724 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2515521782 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS372166228 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS543369426 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Sarcoma, Primary ciliary dyskinesia |
| RS748600370 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS770143722 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS779603085 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2 |
| RS1040183266 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1159887305 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1263006158 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1317129577 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2085791151 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2085808203 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2085836426 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2085848277 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2147299107 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2515521686 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2515545698 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2515545899 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2515547820 | Health Risk | Pathogenic | Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2 |
| RS2515547984 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS387907151 | Health Risk | Pathogenic | Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2 |
| RS387907152 | Health Risk | Pathogenic | Primary ciliary dyskinesia 2, Primary ciliary dyskinesia, Primary ciliary dyskinesia 2 |
| RS397515395 | Health Risk | Pathogenic | Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2 |
| RS745465871 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS756430359 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 2, Primary ciliary dyskinesia |