POC5 Chromosome 5
POC5 centriolar protein
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What This Gene Does
Involved in centriole elongation and negative regulation of centriole elongation. Located in centriole and centrosome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Retinitis pigmentosa
Syndromic retinitis pigmentosa
POC5-related disorder
Retinal dystrophy
Key Variants
RS141696191
Conflicting classifications of pathogenicity
Health Risk
RS1561480377
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Syndromic retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS201739662
Conflicting classifications of pathogenicity
Health Risk
RS201831831
Conflicting classifications of pathogenicity
Health Risk
RS202144329
Conflicting classifications of pathogenicity
Health Risk
RS34678567
Conflicting classifications of pathogenicity
POC5-related disorder, Retinal dystrophy, POC5-related disorder
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141696191 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1561480377 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Syndromic retinitis pigmentosa, Retinitis pigmentosa |
| RS201739662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201831831 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202144329 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34678567 | Health Risk | Conflicting classifications of pathogenicity | POC5-related disorder, Retinal dystrophy, POC5-related disorder |