rs534113568

This variant is located in the TCTN2 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters2 publications

not specified; Joubert syndrome;Meckel-Gruber syndrome

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About TCTN2

This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

View all TCTN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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