NM_014339.7:c.163+1G>A

HGVS Expressions

  • NG_028257.1:g.17127G>A
  • NM_014339.7:c.163+1G>A
  • NC_000022.11:g.17097087G>A
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613953.3.1Algeria2NAPathogenicImmunodeficiency 51Lévy et al. 2016 Patient from 'kindred H' in the publicat...
613953.3.2Algeria1NALévy et al. 2016 Father of 613953.3.1
613953.3.3Algeria1NALévy et al. 2016 Mother of 613953.3.1
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