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 |
|---|---|---|---|
| RS1374316824 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS138269127 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, PRPF31-related disorder, Retinitis pigmentosa |
| RS1411083098 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 11, Retinal dystrophy, Retinitis pigmentosa 11 |
| RS142604510 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS145699524 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS148941732 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555792445 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1555793203 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1600360827 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS201443830 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073856361 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS2073875700 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2146421585 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2146426154 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS368136864 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS368242197 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS368977441 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 11, Inborn genetic diseases, Retinitis pigmentosa 11 |
| RS369049017 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 11, Retinal dystrophy |
| RS369722854 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS370512426 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS371720691 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS371910233 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS376994481 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 11, Retinitis pigmentosa, Retinitis pigmentosa 11 |
| RS377086372 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS587687884 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS587757028 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS727504108 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750340477 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 11, Retinal dystrophy, Retinitis pigmentosa 11 |
| RS757374570 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, PRPF31-related disorder, Retinitis pigmentosa |
| RS759589041 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal disorder, Retinal dystrophy |
| RS760509641 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS760581700 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS76251057 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, PRPF31-related disorder |
| RS763372742 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS763882898 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PRPF31-related disorder, Inborn genetic diseases |
| RS886054618 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS886054619 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1555793207 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1555794302 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1555794509 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600341902 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600341931 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600355373 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600360338 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1600360654 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2073703461 | Health Risk | Likely pathogenic | Retinitis pigmentosa 11, Retinitis pigmentosa 11 |
| RS2073708846 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2073798309 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 11, Retinal dystrophy |
| RS2073800655 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2073817965 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |