NM_020427.3:c.82del

HGVS Expressions

  • NG_011494.1:g.5513del
  • NM_020427.3:c.82del
  • NP_065160.1:p.Cys28fs
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Genomic Location

chr8:142741899

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

4599

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248300.2.1Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003
248300.2.2Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Sister of 248300.2.1
248300.2.3Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Sister of 248300.2.1
248300.3.1Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003
248300.3.2Tunisia1PathogenicMal de MeledaCharfeddine et al. 2003; Mokni et al. 2004 Mother of 248300.3.1
248300.4.1Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003
248300.4.2Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Sister of 248300.4.1
248300.4.3Tunisia1PathogenicMal de MeledaCharfeddine et al. 2003; Mokni et al. 2004 Mother of 248300.4.1
248300.5.1Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 The patient's maternal grandfather was s...
248300.5.2Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Sister of 248300.5.1
248300.G.2Algeria22PathogenicMal de MeledaFischer et al. 1998; Bouadjar et al. 2000; Fischer et al. 2001 11 patients from 9 Algerian families
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