rs2482850623

This variant is located in the ZBTB24 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Immunodeficiency-centromeric instability-facial anomalies syndrome 2

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About ZBTB24

Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2. [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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