rs909069057
This variant is located in the KIFBP gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all KIFBP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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