Gene entry
C1GALT1C1
C1GALT1 specific chaperone 1
- Chromosome
- X
- Cytoband
- Xq24
- Variants (rsID)
- 11
C1GALT1C1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq24). Its official name is “C1GALT1 specific chaperone 1”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs17261572Benignsingle nucleotide variantPolyagglutinable erythrocyte syndrome
- rs137853598Pathogenicsingle nucleotide variantPolyagglutinable erythrocyte syndrome
- rs397514537Pathogenicsingle nucleotide variantPolyagglutinable erythrocyte 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.