rs115849906
This variant is located in the IFT80 gene.
▶ClinVar annotation
About IFT80
The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
View all IFT80 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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