rs771949596
This variant is located in the CEP120 gene.
▶ClinVar annotation
Short-rib thoracic dysplasia 13 with or without polydactyly
View on ClinVar →About CEP120
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
View all CEP120 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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