GENETIC ENCYCLOPEDIA
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gene: RNASEH2C

id84153
symbolRNASEH2C
organismHomo sapiens
full nameribonuclease H2 subunit C
summaryThis 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]
variant-disease

NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) AND Aicardi Goutieres syndrome 3

NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) AND Aicardi Goutieres syndrome

NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly) AND Aicardi Goutieres syndrome 3

NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly) AND Aicardi Goutieres syndrome 3

NM_032193.3(RNASEH2C):c.173-14G>A AND Aicardi Goutieres syndrome

... 83 more


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