HGVS Expressions

  • NG_051361.1:g.209330G>A
  • NM_032504.1:c.8525G>A
  • NP_115893.1:p.Arg2842Gln
  • NC_000002.12:g.209976254G>A
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Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
616801.8.1Palestine; United Arab Em...2Likely PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Obeid et al. 2018 Proband (Emirati of Palestinian origin)
616801.8.2Palestine; United Arab Em...1Obeid et al. 2018 Father of 616801.8.1 (Emirati of Palesti...
616801.8.3Palestine; United Arab Em...1Obeid et al. 2018 Mother of 616801.8.1 (Emirati of Palesti...
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