Gene entry
GALE
UDP-galactose-4-epimerase
- Chromosome
- 1
- Cytoband
- 1p36.11
- Variants (rsID)
- 12
GALE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.11). Its official name is “UDP-galactose-4-epimerase”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs143694860Benignsingle nucleotide variantUDPglucose-4-epimerase deficiency
- rs28940884Benignsingle nucleotide variantUDPglucose-4-epimerase deficiency
- rs121908046Conflicting interpretationssingle nucleotide variantUDPglucose-4-epimerase deficiency
- rs28940885Conflicting interpretationssingle nucleotide variantUDPglucose-4-epimerase deficiency
- rs121908045Pathogenicsingle nucleotide variantUDPglucose-4-epimerase deficiency
- rs121908047Pathogenicsingle nucleotide variantGalactose epimerase deficiency, severe|UDPglucose-4-epimerase deficiency
- rs137853859Pathogenicsingle nucleotide variantUDPglucose-4-epimerase deficiency|See cases
- rs137853861Not classifiedsingle nucleotide variantUDPglucose-4-epimerase deficiency
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.