NM_014336.5:c.178dup

HGVS Expressions

  • NG_008474.1:g.6183dup
  • NM_014336.5:c.178dup
  • NP_055151.3:p.His60ProfsTer98
  • NC_000017.11:g.6434017dup
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

191292

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604393.1Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 4Patel et al. 2016
604393.G.1Saudi Arabia4+Likely PathogenicLeber Congenital Amaurosis 4Patel et al. 2016 Family with unknown number of affected m...
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