rs143745034

This variant is located in the PCARE gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Retinitis pigmentosa; not provided

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About PCARE

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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