rs1337129272

This variant is located in the RPGRIP1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Leber congenital amaurosis 6;Cone-rod dystrophy 13

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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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