HGVS Expressions

  • NG_016465.4:g.70258A>T
  • NM_000492.3:c.416A>T
  • NP_000483.3:p.His139Leu
  • NC_000007.14:g.117531041A>T
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Clinvar Clinical Significance

Uncertain Significance

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
219700.1Bahrain1NALikely PathogenicCystic FibrosisEskandarani, 2002 Compound heterozygous patient
219700.53Saudi Arabia1NALikely PathogenicCystic FibrosisBanjar, 2002; Banjar, 2004 Patient comorbid for cystic fibrosis (co...
219700.G.1.1Bahrain2NALikely PathogenicCystic FibrosisEskandarani, 2002 2 compound heterozygous patients from a ...
219700.G.1.2Bahrain3NALikely PathogenicCystic FibrosisEskandarani, 2002 3 compound heterozygous patients from 3 ...
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