NM_014339.7:c.850C>T

HGVS Expressions

  • NG_028257.1:g.24769C>T
  • NM_014339.7:c.850C>T
  • NP_055154.3:p.Gln284Ter
  • NC_000022.11:g.17104729C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30486

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613953.1Morocco2NAPathogenicImmunodeficiency 51Lévy et al. 2016; Puel et al. 2011 Patient from 'kindred A' in Lévy et al. ...
613955.1.GMorocco5NALévy et al. 2016; Puel et al. 2011 Unaffected relatives of 613953.1 (parent...
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