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Gene

RNASEH1

ribonuclease H1

Summary

Cytogenetic location
2p25.3
Coordinates
Chromosome 2: 3,541,430–3,558,333 (GRCh38)
Exons
8 exons across 16.9 kb
Protein
286 amino acids
MANE Select transcript
ENST00000315212.4NM_002936.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Mitochondrial Disease

    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

      Caused by variants in nuclear genes such as POLG, TWNK, SLC25A4 and RRM2B that lead to multiple mitochondrial DNA deletions, causing drooping eyelids, weak eye movements and muscle weakness, usually in adulthood.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides monitoring of eye, heart and swallowing function and avoidance of valproate in POLG disease.

How RNASEH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where RNASEH1 sits. RNASEH1 and 8 genes near it on chromosome 2, from 3,049,882 to 4,049,881.Chromosome 22p25.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.33.2 Mb3.4 Mb3.6 Mb3.8 Mb4 MbEIPR1: 3,188,255–3,377,879, reverse strandEIPR1TRAPPC12: 3,379,669–3,485,094, forward strandTRAPPC12ADI1: 3,496,380–3,519,584, reverse strandADI1: 3,532,008–3,558,333, reverse strandRNASEH1: 3,541,430–3,558,333, reverse strandRNASEH1RPS7: 3,575,198–3,580,952, forward strandRPS7COLEC11: 3,592,791–3,646,144, forward strandCOLEC11ALLC: 3,658,200–3,702,671, forward strandALLCDCDC2C: 3,703,575–3,848,008, forward strandDCDC2CDiagram of RNASEH1: 8 exons on the reverse strand of chromosome 2Exon 4: 1 known disease-causing siteExon 8: 3,541,430–3,545,871, 4,442 basesExon 7: 3,547,931–3,548,055, 125 basesExon 6: 3,548,640–3,548,724, 85 basesExon 5: 3,549,058–3,549,112, 55 basesExon 4: 3,550,373–3,550,472, 100 basesExon 3: 3,552,144–3,552,308, 165 basesExon 2: 3,556,789–3,556,904, 116 basesExon 1: 3,558,133–3,558,333, 201 bases876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.3 kb of the gene's 16.9 kb; 861 of those bases code for the protein.

How a genome test reads RNASEH1

1

position in RNASEH1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 16.9 kb of RNASEH1, introns included, not only the 5.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RNASEH1 gene: ribonuclease H1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rnaseh1

Vancouver

Dante Labs. RNASEH1 gene: ribonuclease H1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rnaseh1

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