rs779314743

This variant is located in the TMEM231 gene.

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ClinVar annotation

Uncertain Significance★★★☆

4 submitters1 publication

Joubert syndrome 20;Meckel syndrome, type 11; Inborn genetic diseases; not provided; TMEM231-related disorder

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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