HGVS Expressions

  • NG_016465.4:g.142057_142064del
  • NM_000492.3:c.2634_2641del
  • NP_000483.3:p.Leu878fs
  • NC_000007.14:g.117602840_117602847del
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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.6.11Tunisia4NALikely PathogenicCystic FibrosisMessaoud et al. 2005 2 patients from unrelated families
219700.G.6.12Tunisia6NALikely PathogenicCystic FibrosisMessaoud et al. 2005 6 patients from unrelated families
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