rs559371453

This is a variant in the IFT140 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters2 publications

Retinitis pigmentosa 80 (RP80); Saldino-Mainzer syndrome (SRTD9)

About IFT140

This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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