RNASEH2A
Chr 19ARribonuclease H2 subunit A
Also known as: AGS4, RNASEHI, RNHIA, RNHL
RNASEH2A encodes the catalytic subunit of RNase HII, an endonuclease that degrades RNA in RNA:DNA hybrids and excises single ribonucleotides from DNA duplexes during DNA replication. Mutations cause Aicardi-Goutières syndrome, an autosomal recessive neuroinflammatory disorder characterized by progressive microcephaly, psychomotor retardation, intracranial calcifications, and elevated interferon-alpha levels in cerebrospinal fluid. The gene shows low constraint to loss-of-function variation (pLI 0.004, LOEUF 0.88).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNASEH2A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools