Gene entry
GLUD1
glutamate dehydrogenase 1
- Chromosome
- 10
- Cytoband
- 10q23.2
- Variants (rsID)
- 9
GLUD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q23.2). Its official name is “glutamate dehydrogenase 1”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs886047379Conflicting interpretationssingle nucleotide variantHyperinsulinism-hyperammonemia syndrome
- rs121909731Pathogenicsingle nucleotide variantHyperinsulinism-hyperammonemia syndrome
- rs121909734Pathogenicsingle nucleotide variantHyperinsulinism-hyperammonemia syndrome
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.