rs1221141256

This variant is located in the ERI1 gene.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Hoxha-Aliu syndrome

About ERI1

Enables 3'-5' exonuclease activity. Involved in maturation of 5.8S rRNA. Located in cytoplasm and nucleolus. [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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