rs753075654

This variant is located in the IFT172 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71;Bardet-Biedl syndrome 20

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About IFT172

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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