NM_022168.3:c.961G>T

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HGVS Expressions

  • NG_011495.1:g.35261G>T
  • NM_022168.3:c.961G>T
  • NP_071451.2:p.Glu321Ter
  • NC_000002.12:g.162288269C>A

Associated Genes

Interferon-Induced Helicase C Domain-Containing Protein 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615846.1Arab1Likely PathogenicAicardi-Goutieres Syndrome 7Al Mutairi et al. 2018
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Contributors

  • Pratibha Nair: 24.08.2022

Edit History

  • Pratibha Nair: 04.10.2023
  • Pratibha Nair: 24.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.