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Gene entry

BTD

biotinidase

Chromosome
3
Cytoband
3p25.1
Variants (rsID)
53

BTD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.1). Its official name is “biotinidase”. The reference table lists 53 variants (rsID) for this gene.

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Clinically classified variants

31 reference-table entries with clinical significance.

  • rs35034250Benignsingle nucleotide variantBiotinidase deficiency
  • rs35976361Benignsingle nucleotide variantBiotinidase deficiency
  • rs13073139Conflicting interpretationssingle nucleotide variantBiotinidase deficiency
  • rs13078881Conflicting interpretationssingle nucleotide variantBiotinidase deficiency|See cases
  • rs142421934Conflicting interpretationssingle nucleotide variantBiotinidase deficiency
  • rs145388314Conflicting interpretationssingle nucleotide variantBiotinidase deficiency
  • rs181396238Conflicting interpretationssingle nucleotide variantBiotinidase deficiency
  • rs34885143Conflicting interpretationssingle nucleotide variantBiotinidase deficiency
  • rs397514333Conflicting interpretationssingle nucleotide variantBiotinidase deficiency
  • rs397514357Conflicting interpretationssingle nucleotide variantBiotinidase deficiency|Inborn genetic diseases
  • rs397514423Likely pathogenicDeletionBiotinidase deficiency
  • rs104893686Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs104893687Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs104893688Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs138818907Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs146015592Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs146136265Pathogenicsingle nucleotide variantBiotinidase deficiency|See cases
  • rs190386869Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs28934601Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs397507170Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs397514360Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs397514363Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs397514369Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs397514398PathogenicDeletionBiotinidase deficiency
  • rs80338685Pathogenicsingle nucleotide variantBiotinidase deficiency|Intellectual disability|See cases
  • rs80338686Pathogenicsingle nucleotide variantBiotinidase deficiency
  • rs886041559PathogenicDuplicationBiotinidase deficiency
  • rs104893692Uncertain significancesingle nucleotide variantBiotinidase deficiency
  • rs200327983Uncertain significancesingle nucleotide variantBiotinidase deficiency
  • rs201023772Uncertain significancesingle nucleotide variantBiotinidase deficiency
  • rs78601074Uncertain significancesingle nucleotide variantBiotinidase 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.