rs137853113

This is a variant in the KLHL7 gene that changes a alanine to an valine.

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ClinVar annotation

Pathogenic★★★☆
12 submitters12 publications

Retinal dystrophy; Retinitis pigmentosa (RP); Retinitis pigmentosa 42 (RP42)

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About KLHL7

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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