RNASEH2B Chromosome 13
Ribonuclease H2 subunit B
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What This Gene Does
RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
Associated Conditions (12)
Aicardi-Goutieres syndrome 2
RNASEH2B-related disorder
Inborn genetic diseases
Global developmental delay
Aicardi Goutieres syndrome
Clear cell carcinoma of kidney
Papillary renal cell carcinoma type 1
Cerebral palsy
Abnormality of the nervous system
Autism spectrum disorder
Hereditary spastic paraplegia
Aicardi-Goutieres syndrome 1
Key Variants
RS1028530418
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
RS1057517815
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
RS1221359513
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
RS1457494794
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
RS146451037
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
RS148811739
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder, Aicardi-Goutieres syndrome 2
Health Risk
RS200721645
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
RS2137866261
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder, Aicardi-Goutieres syndrome 2
Health Risk
RS747995413
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Inborn genetic diseases, Aicardi-Goutieres syndrome 2
Health Risk
RS75254367
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
RS759273327
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder, Aicardi-Goutieres syndrome 2
Health Risk
RS78705382
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS74555752 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS75184679 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi Goutieres syndrome, Cerebral palsy |
| RS75326546 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS777313709 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS786205483 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 2 |
| RS79310911 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS944032875 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |