rs1114167350

This variant is located in the JAKMIP1 gene.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter1 publication

Smith-Magenis Syndrome-like

About JAKMIP1

Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

View all JAKMIP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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