rs121434514

This is a stop gained variant in the KIFBP gene.

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ClinVar annotation

Pathogenic
1 submitter2 publications

Goldberg-Shprintzen syndrome

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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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