rs767118518

This variant is located in the PGM2L1 gene.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

not provided; Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities

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About PGM2L1

Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

View all PGM2L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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