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Gene entry

TERT

telomerase reverse transcriptase

Chromosome
5
Cytoband
5p15.33
Variants (rsID)
36

TERT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p15.33). Its official name is “telomerase reverse transcriptase”. The reference table lists 36 variants (rsID) for this gene.

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Clinically classified variants

18 reference-table entries with clinical significance.

  • rs10069690Benignsingle nucleotide variantChronic osteomyelitis|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs2242652Benignsingle nucleotide variantIdiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs2736098Benignsingle nucleotide variantDyskeratosis congenita, autosomal dominant 1|Aplastic anemia|Dyskeratosis congenita, autosomal dominant 2|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs2736100Benignsingle nucleotide variantChronic osteomyelitis|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Chronic obstructive pulmonary disease|Combined pulmonary fibrosis-emphysema syndrome
  • rs2736108Benignsingle nucleotide variantIdiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs2853669Benignsingle nucleotide variantIdiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs33948291Benignsingle nucleotide variantDyskeratosis congenita, autosomal dominant 2|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Aplastic anemia|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs61748181Benignsingle nucleotide variantAplastic anemia|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Dyskeratosis congenita, autosomal dominant 2|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Malignant tumor of breast
  • rs7705526Benignsingle nucleotide variantIdiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs199422291Conflicting interpretationssingle nucleotide variantIdiopathic Pulmonary Fibrosis|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs34094720Conflicting interpretationssingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Aplastic anemia|Autosomal recessive dyskeratosis congenita 4|Dyskeratosis congenita, autosomal dominant 2|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Acute myeloid leukemia|Dyskeratosis congenita
  • rs373400596Conflicting interpretationssingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Dyskeratosis congenita, autosomal dominant 2|Aplastic anemia|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita
  • rs375473823Conflicting interpretationssingle nucleotide variantDyskeratosis congenita, autosomal dominant 2|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Aplastic anemia|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs121918666Pathogenicsingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|Idiopathic Pulmonary Fibrosis|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs141425941Uncertain significancesingle nucleotide variantIdiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs149566858Uncertain significancesingle nucleotide variantDyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita, autosomal dominant 2|Idiopathic Pulmonary Fibrosis|Idiopathic Pulmonary Fibrosis
  • rs199422306Uncertain significancesingle nucleotide variantIdiopathic Pulmonary Fibrosis|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal dominant 2
  • rs2735940Uncertain significancesingle nucleotide variantChronic osteomyelitis|Coronary artery disease, susceptibility to

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.