rs104894463

This is a variant in the NRL gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters4 publications

Retinal degeneration, autosomal recessive, clumped pigment type

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About NRL

This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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