NM_080424.4:c.373del

HGVS Expressions

  • NG_051286.1:g.15049del
  • NM_080424.4:c.373del
  • NP_004500.4:p.Thr125fs
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Genomic Location

chr2:230212972

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

65744

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235550.6Palestine2PathogenicHepatic Venoocclusive Disease with ImmunodeficiencyRoscioli et al. 2006 2 similarly affected siblings
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