CIROP Chromosome 14
Ciliated left-right organizer metallopeptidase
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What This Gene Does
Predicted to enable peptidase activity. Predicted to be involved in establishment of left/right asymmetry. Predicted to be located in membrane. Predicted to be active in cytoplasm. Implicated in visceral heterotaxy 12. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (5)
Heterotaxy
visceral
12
autosomal
CIROP-related disorder
Key Variants
RS185661693
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 12
Health Risk
RS553352307
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 12
Health Risk
RS2503617333
Likely pathogenic
Heterotaxy, visceral, 12
Health Risk
RS1014082266
Pathogenic
Heterotaxy, visceral, 12
Health Risk
RS1392604380
Pathogenic
Heterotaxy, visceral, 12
Health Risk
RS183023758
Pathogenic
Heterotaxy, visceral, 12
Health Risk
RS2140282332
Pathogenic
Heterotaxy, visceral, 12
Health Risk
RS764530848
Pathogenic
Heterotaxy, visceral, 12
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS185661693 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 12 |
| RS553352307 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 12 |
| RS2503617333 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 12 |
| RS1014082266 | Health Risk | Pathogenic | Heterotaxy, visceral, 12 |
| RS1392604380 | Health Risk | Pathogenic | Heterotaxy, visceral, 12 |
| RS183023758 | Health Risk | Pathogenic | Heterotaxy, visceral, 12 |
| RS2140282332 | Health Risk | Pathogenic | Heterotaxy, visceral, 12 |
| RS764530848 | Health Risk | Pathogenic | Heterotaxy, visceral, 12 |