HGVS Expressions

  • NG_011629.2:g.18875C>A
  • NM_001256317.3:c.800C>A
  • NP_001243246.1:p.Ser267Ter
  • NC_000021.9:g.42382217G>T
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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
601072.GUnited Arab Emirates4Likely PathogenicDeafness, Autosomal Recessive 8Elsayed O and Al-Shamsi A. 2022 Autosomal recessive
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