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Gene entry

G6PC1

glucose-6-phosphatase catalytic subunit 1

Chromosome
17
Cytoband
17q21.31
Variants (rsID)
17

G6PC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.31). Its official name is “glucose-6-phosphatase catalytic subunit 1”. The reference table lists 17 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs2229611Benignsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs368450665Conflicting interpretationssingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA|Glycogen storage disease, type I
  • rs116897758Likely benignsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs104894563Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs104894565Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs104894566Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs104894567Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs1801175Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA|Glycogen storage disease|Hypoglycemia|Short stature
  • rs1801176Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs780226142Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs80356482Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs80356483Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs80356484Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs80356485Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs80356487Pathogenicsingle nucleotide variantGlycogen storage disease due to glucose-6-phosphatase deficiency type IA|Glycogen storage disease

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.