CFAP53 Chromosome 18
Cilia and flagella associated protein 53
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What This Gene Does
This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
18q21.1
Ensembl
ENSG00000172361
Associated Conditions (6)
Heterotaxy
visceral
6
autosomal
Inborn genetic diseases
Dextrocardia
Key Variants
RS192619553
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 6
Health Risk
RS369539291
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 6
Health Risk
RS377709493
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555672928
Likely pathogenic
Dextrocardia, Dextrocardia
Health Risk
RS2144412496
Likely pathogenic
Heterotaxy, visceral, 6
Health Risk
RS557771609
Likely pathogenic
Heterotaxy, Heterotaxy
Health Risk
RS897584290
Likely pathogenic
Heterotaxy, visceral, 6
Health Risk
RS1178515683
Pathogenic
Heterotaxy, visceral, 6
Health Risk
RS375801610
Pathogenic
Heterotaxy, visceral, 6
Health Risk
RS778118886
Pathogenic
Heterotaxy, Heterotaxy
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS192619553 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 6 |
| RS369539291 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 6 |
| RS377709493 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555672928 | Health Risk | Likely pathogenic | Dextrocardia, Dextrocardia |
| RS2144412496 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 6 |
| RS557771609 | Health Risk | Likely pathogenic | Heterotaxy, Heterotaxy |
| RS897584290 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 6 |
| RS1178515683 | Health Risk | Pathogenic | Heterotaxy, visceral, 6 |
| RS375801610 | Health Risk | Pathogenic | Heterotaxy, visceral, 6 |
| RS778118886 | Health Risk | Pathogenic | Heterotaxy, Heterotaxy |