NM_000206.2:c.820_823dup

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HGVS Expressions

  • NG_021141.1:g.3156_3159dup
  • NM_000206.2:c.820_823dup
  • NP_000197.1:p.Ser275AsnfsTer29
  • NC_000023.11:g.71108630_71108633dup

Associated Genes

Interleukin 2 Receptor, Gamma
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300400.1United Arab Emirates1Likely PathogenicSevere Combined Immunodeficiency, X-LinkedYahya et al. 2021 The patient exhibited an aggressive lymp...
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Contributors

  • Sami Bizzari: 13.01.2022

Edit History

  • Sami Bizzari: 13.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.