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Gene entry

RTEL1

regulator of telomere elongation helicase 1

Chromosome
20
Cytoband
20q13.33
Variants (rsID)
16

RTEL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.33). Its official name is “regulator of telomere elongation helicase 1”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

10 reference-table entries with clinical significance.

  • rs115610405Benignsingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita
  • rs35640778Benignsingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita
  • rs41302954Benignsingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita
  • rs41309931Benignsingle nucleotide variantDyskeratosis congenita|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
  • rs41310197Benignsingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita
  • rs146221660Conflicting interpretationssingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita, autosomal recessive 5|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita
  • rs370343781Pathogenicsingle nucleotide variantDyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita|Dyskeratosis congenita, autosomal recessive 5|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
  • rs373740199Pathogenicsingle nucleotide variantDyskeratosis congenita, autosomal dominant, 4|Dyskeratosis congenita|Dyskeratosis congenita, autosomal recessive 5|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5
  • rs776744306Pathogenicsingle nucleotide variantPulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Idiopathic Pulmonary Fibrosis|Dyskeratosis congenita
  • rs863225053PathogenicDeletionPulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Idiopathic Pulmonary Fibrosis

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.