NM_024570.4:c.239A>G

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HGVS Expressions

  • NG_009055.1:g.24822A>G
  • NM_024570.4:c.239A>G
  • NP_078846.2:p.Gln80Arg

Associated Genes

Ribonuclease H2, Subunit B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1036017

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610181.2Lebanon2Likely PathogenicAicardiI-Goutieres Syndrome 2Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 01.11.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 01.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.