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Gene entry

PYCR1

pyrroline-5-carboxylate reductase 1

Chromosome
17
Cytoband
17q25.3
Variants (rsID)
4

PYCR1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.3). Its official name is “pyrroline-5-carboxylate reductase 1”. The reference table lists 4 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs113491328Conflicting interpretationssingle nucleotide variantCutis laxa
  • rs281875318Conflicting interpretationssingle nucleotide variantPYCR1-related de Barsy syndrome|Inborn genetic diseases|Wiedemann-Rautenstrauch-like progeroid syndrome
  • rs121918377Pathogenicsingle nucleotide variantAutosomal recessive cutis laxa type 2B|PYCR1-related de Barsy syndrome|Wiedemann-Rautenstrauch-like progeroid syndrome
  • rs281875319Pathogenicsingle nucleotide variantPYCR1-related de Barsy syndrome

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.