rs137853116

This is a variant in the IFT80 gene that changes a alanine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters3 publications

Asphyxiating thoracic dystrophy 2 (SRTD2); Jeune thoracic dystrophy (ATD1)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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