RNASEH2A Chromosome 19
Ribonuclease H2 subunit A
Upload your DNA to see your personal genotypes for variants in RNASEH2A.
What This Gene Does
The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
Associated Conditions (5)
Aicardi-Goutieres syndrome 4
Inborn genetic diseases
RNASEH2A-related disorder
Aicardi Goutieres syndrome
RNASEH2A-related type 1 interferonopathy
Key Variants
RS1415211346
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS143029477
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Inborn genetic diseases, Aicardi-Goutieres syndrome 4
Health Risk
RS145662304
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS200834484
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS373301983
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS374650162
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS375139492
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS560268310
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS757139110
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
RS758719669
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Inborn genetic diseases, RNASEH2A-related disorder
Health Risk
RS76436818
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 4
Health Risk
RS765818462
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1415211346 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS143029477 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Inborn genetic diseases, Aicardi-Goutieres syndrome 4 |
| RS145662304 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS200834484 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS373301983 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS374650162 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS375139492 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS560268310 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS757139110 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS758719669 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Inborn genetic diseases, RNASEH2A-related disorder |
| RS76436818 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 4 |
| RS765818462 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS770898096 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Inborn genetic diseases, Aicardi-Goutieres syndrome 4 |
| RS773112247 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS778120777 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS778842661 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Inborn genetic diseases, Aicardi-Goutieres syndrome 4 |
| RS781591228 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS1273822899 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS1289090477 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS1388246689 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS1403542725 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS1555734800 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1969053208 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2145824951 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2145830162 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2512479908 | Health Risk | Likely pathogenic | RNASEH2A-related disorder, RNASEH2A-related disorder |
| RS2512890062 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS75718910 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome, Inborn genetic diseases |
| RS1276969689 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS1386586416 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, RNASEH2A-related disorder, Aicardi-Goutieres syndrome 4 |
| RS1425723325 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS1969104362 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2512478127 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2512889135 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2512890193 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2512892954 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS397515479 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS753695101 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS762503607 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS762934652 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS76857106 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS781284373 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS867179008 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS2145830181 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4 |
| RS397515480 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 4 |
| RS549586181 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome, RNASEH2A-related disorder |
| RS753679297 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 4, Inborn genetic diseases, Aicardi Goutieres syndrome |
| RS77103971 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome, RNASEH2A-related disorder |