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Gene entry

CRELD1

CRELD disulfide isomerase 1

Chromosome
3
Cytoband
3p25.3
Variants (rsID)
7

CRELD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.3). Its official name is “CRELD disulfide isomerase 1”. The reference table lists 7 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs2302787Benignsingle nucleotide variantAtrioventricular septal defect, susceptibility to, 2
  • rs76764016Benignsingle nucleotide variantAtrioventricular septal defect, susceptibility to, 2
  • rs28941780Conflicting interpretationssingle nucleotide variantAtrioventricular septal defect, partial, with heterotaxy syndrome|Atrioventricular septal defect, susceptibility to, 2
  • rs28942091Likely benignsingle nucleotide variantAtrioventricular septal defect, susceptibility to, 2

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.