Gene entry
GALK1
galactokinase 1
- Chromosome
- 17
- Cytoband
- 17q25.1
- Variants (rsID)
- 13
GALK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.1). Its official name is “galactokinase 1”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs871443Benignsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia|Deficiency of galactokinase|Epidermolysis bullosa simplex 1C, localized|Junctional epidermolysis bullosa, non-Herlitz type
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.