rs199764888

This variant is located in the SLC37A4 gene.

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ClinVar annotation

Conflicting Classifications

5 submitters1 publication

Glucose-6-phosphate transport defect; not provided; Inborn genetic diseases; SLC37A4-related disorder

About SLC37A4

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]

View all SLC37A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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