CFAP298 Chromosome 21
Cilia and flagella associated protein 298
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What This Gene Does
This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"Cilia and flagella associated|Axonemal dynein assembly factors"
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000159079
Associated Conditions (2)
Primary ciliary dyskinesia 26
Heterotaxy
Key Variants
RS2517193276
Likely pathogenic
Health Risk
RS2038760864
Pathogenic
Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
Health Risk
RS2038953746
Pathogenic
Health Risk
RS2146563694
Pathogenic
Heterotaxy, Heterotaxy
Health Risk
RS398122401
Pathogenic
Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
Health Risk
RS746361802
Pathogenic
Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
Health Risk
RS750995181
Pathogenic
Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
Health Risk
RS767192965
Pathogenic
Health Risk
RS143740376
Pathogenic/Likely pathogenic
Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
Health Risk
RS202094637
Pathogenic/Likely pathogenic
Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517193276 | Health Risk | Likely pathogenic | — |
| RS2038760864 | Health Risk | Pathogenic | Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26 |
| RS2038953746 | Health Risk | Pathogenic | — |
| RS2146563694 | Health Risk | Pathogenic | Heterotaxy, Heterotaxy |
| RS398122401 | Health Risk | Pathogenic | Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26 |
| RS746361802 | Health Risk | Pathogenic | Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26 |
| RS750995181 | Health Risk | Pathogenic | Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26 |
| RS767192965 | Health Risk | Pathogenic | — |
| RS143740376 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26 |
| RS202094637 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26 |