HGVS Expressions

  • NG_016411.1:g.33486C>G
  • NM_002241.4:c.847C>G
  • NP_002232.2:p.Leu283Val
  • NC_000001.11:g.160041686G>C
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Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
612780.2United Arab Emirates2Likely PathogenicSeizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte ImbalanceSaleh et al. 2021 Similarly affected sister
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