rs387907107

This is a variant in the IFT43 gene that changes a methionine to an valine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters5 publications

Cranioectodermal dysplasia 3 (CED3)

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About IFT43

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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