rs7984

This is a 5 prime utr variant variant in the RHO gene.

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ClinVar annotation

Benign★★★☆

7 submitters1 publication

Congenital stationary night blindness autosomal dominant 1; Pigmentary retinal dystrophy; Retinitis pigmentosa (RP); Retinitis pigmentosa 4 (RP4); not specified

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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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