rs1468902182

This variant is located in the CRTAP gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Osteogenesis imperfecta type 7; Inborn genetic diseases

About CRTAP

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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