NM_138422.4:c.430G>A

HGVS Expressions

  • NG_051211.1:g.12264G>A
  • NM_138422.4:c.430G>A
  • NP_612431.2:p.Val144Met
  • NC_000019.10:g.1912477G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

183301

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615286.1United Arab Emirates; Yem...2PathogenicMental Retardation, Autosomal Recessive 36El-Hattab et al. 2016 Emirati patient of Yemeni origin
615286.G.1Saudi Arabia28PathogenicMental Retardation, Autosomal Recessive 36El-Hattab et al. 2016 14 patients (7 males; 7 females) from 11...
615286.G.2Saudi Arabia48PathogenicMental Retardation, Autosomal Recessive 36Alazami et al. 2013 24 patients (12 males; 12 females) from ...
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