rs751222088

This is a variant in the IFT81 gene that changes a leucine to an phenylalanine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY; Short-rib thoracic dysplasia 19 with or without polydactyly

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About IFT81

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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