rs760426025

This variant is located in the TMEM231 gene.

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ClinVar annotation

Conflicting Classifications
6 submitters5 publications

Meckel syndrome, type 11; Meckel syndrome, type 11;Joubert syndrome 20; not provided; Joubert syndrome and related disorders; Joubert syndrome 20; TMEM231-related disorder

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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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