PRPF31 Chromosome 19
Pre-mRNA processing factor 31
Upload your DNA to see your personal genotypes for variants in PRPF31.
What This Gene Does
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
Gene Info
Gene Group
U4/U6 small nuclear ribonucleoprotein particle
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000105618
Associated Conditions (7)
Retinal dystrophy
Retinitis pigmentosa
PRPF31-related disorder
Retinitis pigmentosa 11
Inborn genetic diseases
Retinal disorder
See cases
Key Variants
RS1374316824
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS138269127
Conflicting classifications of pathogenicity
Retinitis pigmentosa, PRPF31-related disorder, Retinitis pigmentosa
Health Risk
RS1411083098
Conflicting classifications of pathogenicity
Retinitis pigmentosa 11, Retinal dystrophy, Retinitis pigmentosa 11
Health Risk
RS142604510
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS145699524
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS148941732
Conflicting classifications of pathogenicity
Health Risk
RS1555792445
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1555793203
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1600360827
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS201443830
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS2073856361
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2073875700
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
All Variants (222)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555793170 | Health Risk | Pathogenic | — |
| RS1555794201 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS1568600184 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS1600324262 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600324442 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600337143 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS1600337158 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600342032 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600342050 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600344451 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS1600350656 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600355502 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600356790 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS201265631 | Health Risk | Pathogenic | — |
| RS2073701678 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073702243 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073704298 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073708638 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073709795 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2073798559 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073817463 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2073818085 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 11, Retinitis pigmentosa |
| RS2073842959 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS2073855020 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2073871791 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy, Retinal dystrophy |
| RS2073961882 | Health Risk | Pathogenic | — |
| RS2073962058 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073962186 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073964950 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS2073970078 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2073970897 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073971805 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073971890 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS2146392500 | Health Risk | Pathogenic | — |
| RS2146392573 | Health Risk | Pathogenic | — |
| RS2146393119 | Health Risk | Pathogenic | — |
| RS2146393245 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS2146393282 | Health Risk | Pathogenic | — |
| RS2146393934 | Health Risk | Pathogenic | — |
| RS2146394096 | Health Risk | Pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS2146409388 | Health Risk | Pathogenic | — |
| RS2146409471 | Health Risk | Pathogenic | — |
| RS2146409888 | Health Risk | Pathogenic | — |
| RS2146413207 | Health Risk | Pathogenic | — |
| RS2146413305 | Health Risk | Pathogenic | — |
| RS2146413337 | Health Risk | Pathogenic | — |
| RS2146413440 | Health Risk | Pathogenic | — |
| RS2146413624 | Health Risk | Pathogenic | — |
| RS2146418544 | Health Risk | Pathogenic | — |
| RS2146418683 | Health Risk | Pathogenic | — |