HGVS Expressions

  • NG_016465.4:g.131874_131875insT
  • NM_000492.4:c.2490_2490+1insT
  • NC_000007.14:g.117592657_117592658insT
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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
219700.68.1Palestine2NALikely PathogenicCystic FibrosisChami et al, 2017 Proband
219700.68.2Palestine1NAChami et al, 2017 Father of the proband
219700.68.3Palestine1NAChami et al, 2017 Mother of the proband
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