rs1255441851

This variant is located in the CCDC134 gene.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters4 publications

Recurrent fractures; Osteogenesis imperfecta, IIA 22; Severe progressive deforming recessive osteogenesis imperfecta (type III)

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About CCDC134

Enables protein-macromolecule adaptor activity. Involved in positive regulation of signal transduction; regulation of ossification; and regulation of protein glycosylation. Located in cytosol and intracellular membrane-bounded organelle. Is active in endoplasmic reticulum lumen. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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