NM_001080510.5:c.169_172del

HGVS Expressions

  • NG_041790.1:g.11233_11236del
  • NM_001080510.5:c.169_172del
  • NP_001073979.3:p.His57ValfsTer11
  • NC_000017.11:g.76733062_76733065del
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

144023

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615942.1.1United Arab Emirates; Yem...2PathogenicMental Retardation, Autosomal Recessive 44Reiff et al. 2014 Large family, spread over UAE and Saudi ...
615942.1.2United Arab Emirates; Yem...2PathogenicMental Retardation, Autosomal Recessive 44Reiff et al. 2014 Sibling of 615942.1.1
615942.1.3United Arab Emirates; Yem...2PathogenicMental Retardation, Autosomal Recessive 44Reiff et al. 2014 Sibling of 615942.1.1
615942.1.4United Arab Emirates; Yem...2PathogenicMental Retardation, Autosomal Recessive 44Reiff et al. 2014 Second cousin of 615942.1.1
615942.1.5Yemen2PathogenicMental Retardation, Autosomal Recessive 44Reiff et al. 2014 Second cousin of 615942.1.1
615942.1.6Yemen2PathogenicMental Retardation, Autosomal Recessive 44Reiff et al. 2014 Second cousin of 615942.1.1
615942.1.7Yemen2PathogenicMental Retardation, Autosomal Recessive 44Reiff et al. 2014 Second cousin of 615942.1.1
615942.1.8United Arab Emirates; Yem...1PathogenicReiff et al. 2014 Mother 615942.1.1
615942.1.9United Arab Emirates; Yem...1PathogenicReiff et al. 2014 Father 615942.1.1
615942.1.10Yemen1PathogenicReiff et al. 2014 Mother 615942.1.4
615942.1.11Yemen1PathogenicReiff et al. 2014 Father 615942.1.4
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