rs1439576531

This variant is located in the PRPF31 gene.

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ClinVar annotation

Pathogenic★★★☆

2 submitters4 publications

Retinitis pigmentosa; not provided

About PRPF31

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]

View all PRPF31 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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