rs121907889

This is a variant in the GNMT gene that changes a histidine to an asparagine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Glycine N-methyltransferase deficiency

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About GNMT

The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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