HGVS Expressions

  • NG_033898.1:g.48701A>G
  • NM_130466.3:c.2252A>G
  • NP_569733.2:p.Lys751Arg
  • NC_000012.12:g.109521323A>G
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Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
244450.1United Arab Emirates2Likely PathogenicKaufman Oculocerebrofacial SyndromeSaleh et al. 2021 Similarly affected sibling and cousin
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