NM_014339.7:c.721del

HGVS Expressions

  • NG_028257.1:g.22301del
  • NM_014339.7:c.721del
  • NP_055154.3:p.Glu241ArgfsTer103
  • NC_000022.11:g.17102261del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613953.6Saudi Arabia2Likely PathogenicImmunodeficiency 51Monies et al. 2017
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