rs542930751

This variant is located in the PDE4D gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Acrodysostosis 2 with or without hormone resistance

About PDE4D

This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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