rs762463547

This variant is located in the TFEB gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TFEB

Enables DNA-binding transcription factor activity; enzyme binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including antibacterial innate immune response; cellular response to amino acid starvation; and positive regulation of metabolic process. Located in cytosol and lysosomal membrane. Is active in nucleus. [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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