rs760282629

This variant is located in the PDZD8 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PDZD8

Predicted to enable lipid binding activity and zinc ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. [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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