PRCD Chromosome 17
Photoreceptor disc component
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What This Gene Does
This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Associated Conditions (3)
Retinitis pigmentosa
Retinitis pigmentosa 36
Retinal dystrophy
Key Variants
RS200645008
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS2074979029
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS757471313
Conflicting classifications of pathogenicity
Health Risk
RS1009828411
Likely pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1598211633
Likely pathogenic
Health Risk
RS2074970792
Pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS2143140372
Pathogenic
Health Risk
RS387907268
Pathogenic
Retinitis pigmentosa 36, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS527451635
Pathogenic
Retinal dystrophy, Retinitis pigmentosa 36, Retinitis pigmentosa
Health Risk
RS773201535
Pathogenic
Retinal dystrophy, Retinitis pigmentosa 36, Retinal dystrophy
Health Risk
RS527236092
Pathogenic/Likely pathogenic
Retinitis pigmentosa, Retinitis pigmentosa 36, Retinal dystrophy
Health Risk
RS779066277
Pathogenic/Likely pathogenic
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200645008 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2074979029 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS757471313 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1009828411 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1598211633 | Health Risk | Likely pathogenic | — |
| RS2074970792 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2143140372 | Health Risk | Pathogenic | — |
| RS387907268 | Health Risk | Pathogenic | Retinitis pigmentosa 36, Retinitis pigmentosa, Retinal dystrophy |
| RS527451635 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 36, Retinitis pigmentosa |
| RS773201535 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 36, Retinal dystrophy |
| RS527236092 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 36, Retinal dystrophy |
| RS779066277 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |