rs2472501580

This variant is located in the HEG1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About HEG1

Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Jul 2025]

View all HEG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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