rs140543627

This variant is located in the EEFSEC gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

2 submitters1 publication

not specified; Neurodevelopmental disorder with progressive spasticity and brain abnormalities

About EEFSEC

Enables GTPase activity. Involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

View all EEFSEC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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