rs563451589

This variant is located in the TMEM94 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

Intellectual developmental disorder with cardiac defects and dysmorphic facies; Inborn genetic diseases; not provided

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About TMEM94

Enables P-type magnesium transporter activity. Involved in magnesium ion transport from cytosol to endoplasmic reticulum. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all TMEM94 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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