rs375216448

This variant is located in the NSUN4 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About NSUN4

Enables mRNA (cytidine-5-)-methyltransferase activity and rRNA (cytosine-C5-)-methyltransferase activity. Involved in mitochondrial RNA catabolic process; mitochondrial RNA modification; and rRNA methylation. Located in mitochondrial matrix. Part of mitochondrial large ribosomal subunit. [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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