Gene entry
GALC
galactosylceramidase
- Chromosome
- 14
- Cytoband
- 14q31.3
- Variants (rsID)
- 28
GALC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q31.3). Its official name is “galactosylceramidase”. The reference table lists 28 variants (rsID) for this gene.
Clinically classified variants
19 reference-table entries with clinical significance.
- rs11552556Benignsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs17198Benignsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs1805078Benignsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs74887188Benignsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs145580093Conflicting interpretationssingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs147313927Conflicting interpretationssingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs183105855Conflicting interpretationssingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs190921137Conflicting interpretationssingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs34134328Conflicting interpretationssingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs73312829Conflicting interpretationssingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs886038260Conflicting interpretationssingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs1057516453Pathogenicsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs121908010Pathogenicsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs199847983Pathogenicsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs200960659Pathogenicsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs752537626Pathogenicsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency|Inborn genetic diseases
- rs756352952Pathogenicsingle nucleotide variantGalactosylceramide beta-galactosidase deficiency
- rs771489305PathogenicDeletionGalactosylceramide beta-galactosidase deficiency
- rs786204454PathogenicDeletionGalactosylceramide beta-galactosidase 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.