rs137853124

This is a stop gained variant in the RPGRIP1 gene.

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ClinVar annotation

Pathogenic
2 submitters2 publications

Leber congenital amaurosis (LCA); Leber congenital amaurosis 6 (LCA6)

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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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