rs367690496

This variant is located in the TTC21B gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

Jeune thoracic dystrophy;Nephronophthisis; Nephronophthisis 12;Asphyxiating thoracic dystrophy 4; not provided; TTC21B-related disorder

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About TTC21B

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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