rs397514754

This is a variant in the TMEM231 gene that changes a glutamine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters5 publications

Joubert syndrome and related disorders; Meckel syndrome, type 11 (MKS11)

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About TMEM231

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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