NM_014339.7:c.268del

HGVS Expressions

  • NG_028257.1:g.17941del
  • NM_014339.7:c.268del
  • NP_055154.3:p.Leu90CysfsTer30
  • NC_000022.11:g.17097901del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

372207

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613953.4.1Saudi Arabia2NAPathogenicImmunodeficiency 51Lévy et al. 2016 Patient from 'kindred J' in the publicat...
613953.4.2Saudi Arabia2NAPathogenicImmunodeficiency 51Lévy et al. 2016 Brother of 613953.4.1
613953.4.3Saudi Arabia2NAPathogenicImmunodeficiency 51Lévy et al. 2016 Cousin of 613953.4.1
613953.4.4Saudi Arabia2NAPathogenicImmunodeficiency 51Lévy et al. 2016 Cousin of 613953.4.1
613953.4.GSaudi Arabia7NALévy et al. 2016 Unaffected relatives of 613953.4.1 (pare...
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