rs1591885305

This variant is located in the DDX6 gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Intellectual developmental disorder with impaired language and dysmorphic facies

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About DDX6

This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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