HGVS Expressions

  • NG_016126.1:g.12966C>T
  • NM_019892.6:c.1534C>T
  • NP_063945.2:p.Arg512Trp
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Genomic Location


Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
213300.2United Arab Emirates2Joubert Syndrome 1Bielas et al. 2009 Emirati patient of Omani origin from 'MT...
213300.G.1United Arab Emirates10Joubert Syndrome 1Bielas et al. 2009 Five Emirati patients of Omani origin fr...
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