rs2492672109

This variant is located in the TCTN3 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Orofacial-digital syndrome IV;Joubert syndrome 18

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About TCTN3

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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