Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PCBD1

pterin-4 alpha-carbinolamine dehydratase 1

Chromosome
10
Cytoband
10q22.1
Variants (rsID)
2

PCBD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q22.1). Its official name is “pterin-4 alpha-carbinolamine dehydratase 1”. The reference table lists 2 variants (rsID) for this gene.

Clinically classified variants

1 reference-table entries with clinical significance.

  • rs115117837Likely benignsingle nucleotide variantPterin-4 alpha-carbinolamine dehydratase 1 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.