rs1768350048

This variant is located in the EYS gene.

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ClinVar annotation

Uncertain Significance

1 submitter

Autosomal recessive retinitis pigmentosa

About EYS

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

View all EYS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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