rs945185139

This variant is located in the DEF8 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About DEF8

Predicted to enable zinc ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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