rs104893790

This is a variant in the RHO gene that changes a glycine to an aspartate.

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ClinVar annotation

Pathogenic★★★☆
5 submitters13 publications

Congenital stationary night blindness autosomal dominant 1; Pigmentary retinal dystrophy; Retinal dystrophy

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About RHO

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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