rs2529548404

This variant is located in the MSL2 gene.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter1 publication

not specified

About MSL2

Enables histone H2B ubiquitin ligase activity. Involved in DNA damage response and protein monoubiquitination. Located in nucleus. Part of MSL complex. Is active in chromatin. [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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