rs113973637
This variant is located in the TTC21B gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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]
View all TTC21B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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