Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

XYLT1

xylosyltransferase 1

Chromosome
16
Cytoband
16p12.3
Variants (rsID)
123

XYLT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p12.3). Its official name is “xylosyltransferase 1”. The reference table lists 123 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs61758388Benignsingle nucleotide variantPseudoxanthoma elasticum, modifier of severity of|Desbuquois dysplasia 1|Desbuquois dysplasia 2
  • rs74993523Conflicting interpretationssingle nucleotide variantDesbuquois dysplasia 1

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.