rs1171115208

This variant is located in the EEFSEC gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

Autosomal recessive non-syndromic intellectual disability

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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