PRPF31 Chromosome 19

Pre-mRNA processing factor 31
222 variants 222 Health Risk

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
RS2073854068 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073873693 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073875313 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073876392 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073927586 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073961843 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 11, Retinal dystrophy
RS2073970450 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073971858 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2074043162 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2146392668 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146393019 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146394271 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146409568 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146418475 Health Risk Likely pathogenic —
RS2146420485 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2146420554 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146421305 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146424948 Health Risk Likely pathogenic —
RS2146437002 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146443608 Health Risk Likely pathogenic —
RS2146445593 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2146450161 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146450721 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146453060 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2516081224 Health Risk Likely pathogenic —
RS2516116469 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516117325 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516139169 Health Risk Likely pathogenic —
RS2516193520 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516196116 Health Risk Likely pathogenic —
RS2516205158 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS527236094 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236095 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS878853331 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853334 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853335 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1057517982 Health Risk Pathogenic Retinal dystrophy, See cases, Retinal dystrophy
RS1057520752 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11, Retinitis pigmentosa
RS1184467860 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS119475042 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS119475043 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1314226094 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy, Retinal dystrophy
RS1343138103 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1389305246 Health Risk Pathogenic —
RS1406386099 Health Risk Pathogenic —
RS1411470197 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1439576531 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS144738703 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555791188 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11, Retinitis pigmentosa
RS1555792415 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy, PRPF31-related disorder
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