Gene entry
GFPT1
glutamine--fructose-6-phosphate transaminase 1
- Chromosome
- 2
- Cytoband
- 2p13.3
- Variants (rsID)
- 9
GFPT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p13.3). Its official name is “glutamine--fructose-6-phosphate transaminase 1”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs2230300Benignsingle nucleotide variantCongenital myasthenic syndrome 12
- rs201322234Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 12
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.