Gene entry
G6PC3
glucose-6-phosphatase catalytic subunit 3
- Chromosome
- 17
- Cytoband
- 17q21.31
- Variants (rsID)
- 3
G6PC3 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 3”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs113416399Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- rs200478425Conflicting interpretationssingle nucleotide variantAutosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- rs118203968Pathogenicsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.