rs368640487

This variant is located in the PDE6G gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

About PDE6G

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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