HGVS Expressions

  • NG_012857.1:g.33801del
  • NM_001039141.3:c.3232del
  • NP_001034230.1:p.Arg1078AlafsTer135
  • NC_000022.11:g.37725788del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609823.1United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 28Elsayed O and Al-Shamsi A. 2022 One individual reported with no other in...
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