rs747444455

This variant is located in the PHLDB1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PHLDB1

Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in basal cortex. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]

View all PHLDB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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