rs548072003

This variant is located in the INO80 gene.

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ClinVar annotation

Likely Benign

1 submitter

INO80-related disorder

About INO80

This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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