HGVS Expressions

  • NG_028257.1:g.5243_5250del
  • NM_014339.7:c.112_119del
  • NP_055154.3:p.His38AlafsTer15
  • NC_000022.11:g.17085203_17085210del
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CTGA Clinical Significance


Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613953.2.1Saudi Arabia2NAPathogenicImmunodeficiency 51Lévy et al. 2016 Patient from 'kindred G' in the publicat...
613953.2.2Saudi Arabia2NAPathogenicImmunodeficiency 51Lévy et al. 2016 Sister of 613953.2.1
613953.2.3Saudi Arabia1NALévy et al. 2016 Father of 613953.2.1
613953.2.4Saudi Arabia1NALévy et al. 2016 Mother of 613953.2.1
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