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 |
|---|---|---|---|
| RS1028530418 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1057517815 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1221359513 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1457494794 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS146451037 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS148811739 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder, Aicardi-Goutieres syndrome 2 |
| RS200721645 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2137866261 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder, Aicardi-Goutieres syndrome 2 |
| RS747995413 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Inborn genetic diseases, Aicardi-Goutieres syndrome 2 |
| RS75254367 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS759273327 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder, Aicardi-Goutieres syndrome 2 |
| RS78705382 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS886050291 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS891972892 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Aicardi-Goutieres syndrome 2, Global developmental delay |
| RS959811072 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 2, Inborn genetic diseases, Aicardi-Goutieres syndrome 2 |
| RS1064797046 | Health Risk | Likely pathogenic | — |
| RS1342532406 | Health Risk | Likely pathogenic | — |
| RS1879262846 | Health Risk | Likely pathogenic | — |
| RS1951927051 | Health Risk | Likely pathogenic | — |
| RS2541490868 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2541498472 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2541543792 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS367915667 | Health Risk | Likely pathogenic | Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS751915137 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Clear cell carcinoma of kidney, Aicardi-Goutieres syndrome 2 |
| RS75325951 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 2 |
| RS767139201 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS772788079 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS778933609 | Health Risk | Likely pathogenic | — |
| RS80087649 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1085307091 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1337018128 | Health Risk | Pathogenic | Aicardi Goutieres syndrome, Aicardi Goutieres syndrome |
| RS1452451283 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1555257383 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1951857498 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2137866137 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2137866660 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2137925083 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2137952274 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 2 |
| RS2137982729 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2541531608 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS2541620694 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS74876702 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS75186889 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder, Aicardi Goutieres syndrome |
| RS771472509 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS77301371 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS778329909 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS886041377 | Health Risk | Pathogenic | — |
| RS1176797481 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS1593470515 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |
| RS372632599 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2 |