RNASEH2C Chromosome 11
Ribonuclease H2 subunit C
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What This Gene Does
This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Aicardi-Goutieres syndrome 3
Aicardi Goutieres syndrome
RNASEH2C-related disorder
Inborn genetic diseases
Abnormality of the nervous system
Key Variants
RS147021687
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
Health Risk
RS1565213769
Conflicting classifications of pathogenicity
Health Risk
RS1857335838
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
Health Risk
RS554234154
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 3
Health Risk
RS751767695
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
Health Risk
RS76091978
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, RNASEH2C-related disorder, Aicardi-Goutieres syndrome 3
Health Risk
RS772757667
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, RNASEH2C-related disorder, Aicardi-Goutieres syndrome 3
Health Risk
RS772940104
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Inborn genetic diseases, Aicardi-Goutieres syndrome 3
Health Risk
RS775240118
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
Health Risk
RS78464826
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 3
Health Risk
RS886048502
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
Health Risk
RS1064793942
Likely pathogenic
Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147021687 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3 |
| RS1565213769 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1857335838 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3 |
| RS554234154 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 3 |
| RS751767695 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3 |
| RS76091978 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, RNASEH2C-related disorder, Aicardi-Goutieres syndrome 3 |
| RS772757667 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, RNASEH2C-related disorder, Aicardi-Goutieres syndrome 3 |
| RS772940104 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Inborn genetic diseases, Aicardi-Goutieres syndrome 3 |
| RS775240118 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3 |
| RS78464826 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 3 |
| RS886048502 | Health Risk | Conflicting classifications of pathogenicity | Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3 |
| RS1064793942 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3 |
| RS771013055 | Health Risk | Likely pathogenic | — |
| RS77834781 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3 |
| RS78635798 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 3, Aicardi Goutieres syndrome, Abnormality of the nervous system |