PRPF3 Chromosome 1
Pre-mRNA processing factor 3
Upload your DNA to see your personal genotypes for variants in PRPF3.
What This Gene Does
The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
U4/U6 small nuclear ribonucleoprotein particle
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000117360
Associated Conditions (5)
Retinitis pigmentosa 18
Retinitis pigmentosa
PRPF3-related disorder
Retinal dystrophy
Inborn genetic diseases
Key Variants
RS1193742702
Conflicting classifications of pathogenicity
Retinitis pigmentosa 18, Retinitis pigmentosa 18
Health Risk
RS143350315
Conflicting classifications of pathogenicity
Retinitis pigmentosa, PRPF3-related disorder, Retinitis pigmentosa
Health Risk
RS146995242
Conflicting classifications of pathogenicity
Retinitis pigmentosa, PRPF3-related disorder, Retinitis pigmentosa
Health Risk
RS1489740997
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1572263399
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS199721048
Conflicting classifications of pathogenicity
PRPF3-related disorder, PRPF3-related disorder
Health Risk
RS373033761
Conflicting classifications of pathogenicity
Retinitis pigmentosa 18, Retinitis pigmentosa 18
Health Risk
RS376006808
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS587704985
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa
Health Risk
RS782088671
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS782312050
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS782390597
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1193742702 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 18, Retinitis pigmentosa 18 |
| RS143350315 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, PRPF3-related disorder, Retinitis pigmentosa |
| RS146995242 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, PRPF3-related disorder, Retinitis pigmentosa |
| RS1489740997 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1572263399 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS199721048 | Health Risk | Conflicting classifications of pathogenicity | PRPF3-related disorder, PRPF3-related disorder |
| RS373033761 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 18, Retinitis pigmentosa 18 |
| RS376006808 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS587704985 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa |
| RS782088671 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS782312050 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS782390597 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS80201355 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, PRPF3-related disorder, Retinitis pigmentosa |
| RS1658057278 | Health Risk | Likely pathogenic | — |
| RS1658063448 | Health Risk | Likely pathogenic | Retinitis pigmentosa 18, Retinitis pigmentosa 18 |
| RS1658082808 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2525215751 | Health Risk | Likely pathogenic | — |
| RS121434241 | Health Risk | Pathogenic | Retinitis pigmentosa 18, Retinal dystrophy, Retinitis pigmentosa |
| RS121434242 | Health Risk | Pathogenic | Retinitis pigmentosa 18, Retinal dystrophy, Retinitis pigmentosa 18 |
| RS121434243 | Health Risk | Pathogenic | Retinitis pigmentosa 18, Retinitis pigmentosa 18 |
| RS1572263404 | Health Risk | Pathogenic | Retinitis pigmentosa 18, Retinitis pigmentosa 18 |
| RS1658062720 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2525119285 | Health Risk | Pathogenic | — |
| RS2525216689 | Health Risk | Pathogenic | — |
| RS1657981991 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |