NM_014339.7:c.112_119del

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
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
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
© CAGS 2022. All rights reserved.