NM_152419.2:c.1348del

HGVS Expressions

  • NG_009552.1:g.56953del
  • NM_152419.2:c.1348del
  • NP_689632.2:p.Asp450IlefsTer32
  • NC_000008.11:g.43192401del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1074147

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252930.2United Arab Emirates2PathogenicMucopolysaccharidosis, Type IIIcSaleh et al. 2021 Affected sister
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