rs587746193

This variant is located in the PRPF3 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

Retinitis pigmentosa; not provided

About PRPF3

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]

View all PRPF3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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