rs2548019455

This variant is located in the IFT88 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

About IFT88

This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]

View all IFT88 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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