rs539057828
This variant is located in the MLIP gene.
▶ClinVar annotation
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis; Intellectual developmental disorder, autosomal dominant 64
View on ClinVar →About MLIP
Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Jul 2025]
View all MLIP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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