RNASEH1 Chromosome 2
Ribonuclease H1
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What This Gene Does
This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017]
Associated Conditions (5)
RNASEH1-related disorder
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 2
Possible mitochondrial disorder - nuclear genes
Key Variants
RS138292342
Conflicting classifications of pathogenicity
RNASEH1-related disorder, RNASEH1-related disorder
Health Risk
RS150583536
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200495929
Conflicting classifications of pathogenicity
Health Risk
RS1229409884
Likely pathogenic
Health Risk
RS373442996
Likely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS1057517675
Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS766294940
Pathogenic/Likely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Inborn genetic diseases
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138292342 | Health Risk | Conflicting classifications of pathogenicity | RNASEH1-related disorder, RNASEH1-related disorder |
| RS150583536 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200495929 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1229409884 | Health Risk | Likely pathogenic | — |
| RS373442996 | Health Risk | Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1057517675 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS766294940 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Inborn genetic diseases |