rs187598648

This variant is located in the RPGRIP1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters2 publications

Leber congenital amaurosis 6; Cone-rod dystrophy 13; Cone-rod dystrophy 13;Leber congenital amaurosis 6

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About RPGRIP1

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

View all RPGRIP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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