NM_000063.6:c.839_849del

HGVS Expressions

  • NG_011730.1:g.11801_11811del
  • NM_000063.6:c.839_849del
  • NP_000054.2:p.Met280AsnfsTer5
  • NC_000006.12:g.31934289_31934299del

Associated Genes

Complement Component 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

915386

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
217000.1Saudi Arabia2PathogenicComplement Component 2 DeficiencyMonies et al. 2017
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