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Gene entry

TGM1

transglutaminase 1

Chromosome
14
Cytoband
14q12
Variants (rsID)
30

TGM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q12). Its official name is “transglutaminase 1”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs35755034Benignsingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs121918724Conflicting interpretationssingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs142404759Conflicting interpretationssingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs199422322Conflicting interpretationssingle nucleotide variantDyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita, autosomal dominant 3|Revesz syndrome|Dyskeratosis congenita|Autosomal recessive congenital ichthyosis 1
  • rs35312232Conflicting interpretationssingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs41295338Conflicting interpretationssingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs121918716Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1|Lamellar ichthyosis
  • rs121918717Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1|Lamellar ichthyosis
  • rs121918718Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1|Abnormality of the skin
  • rs121918723Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1|Abnormality of the skin
  • rs121918725Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs121918727Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs121918732Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1|Congenital ichthyosiform erythroderma
  • rs139208806Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs142634031Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1|Autosomal recessive congenital ichthyosis
  • rs143473912Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 1
  • rs398122905PathogenicDeletionAutosomal recessive congenital ichthyosis 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.