rs758240571

This variant is located in the GCN1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter2 publications

Arthrogryposis multiplex congenita;Fetal akinesia deformation sequence 1

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About GCN1

Enables several functions, including protein kinase regulator activity; stalled ribosome sensor activity; and ubiquitin-protein transferase regulator activity. Involved in protein-RNA covalent cross-linking repair. Located in cytosol. Is active in cytosolic ribosome. [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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