NM_004004.6:c.334_335del

HGVS Expressions

  • NG_008358.1:g.8728_8729del
  • NM_004004.6:c.334_335del
  • NP_003995.2:p.Lys112fs
  • NC_000013.11:g.20189248_20189249del
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

189051

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.8Egypt1NALikely PathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005
220290.G.6.2Egypt3NALikely PathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005 3 patients from the same family
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