rs570851893

This variant is located in the KIFBP gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication

Goldberg-Shprintzen syndrome; not provided

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About KIFBP

This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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