rs758972393

This is a variant in the ARL13B gene that changes a asparagine to an serine.

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ClinVar annotation

Pathogenic★★★☆

3 submitters2 publications

Joubert syndrome 8 (JBTS8); not specified

About ARL13B

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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