HGVS Expressions

  • NM_000492.4:c.[744-33GATT(7);869+11C=;3909C=]
  • NC_000007.14:g.[117536515GATT(6);117536684C=;117652877C=]
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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
219700.G.15.1Lebanon60.273Likely PathogenicCystic FibrosisFarhat et al. 2022 11 Lebanese CF patients
219700.G.15.2Egypt1990.995Likely PathogenicCystic FibrosisFarhat et al. 2022 50 Egyptian CF patients
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