rs1060499744

This is a variant in the ASH2L gene that changes a isoleucine to an valine.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Global developmental delay (DD); Intellectual disability

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About ASH2L

Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [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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