rs12784530

This variant is located in the TCTN3 gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Joubert syndrome 18; Orofacial-digital syndrome IV

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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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