NM_000492.4:c.2490_2490+1insT

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HGVS Expressions

  • NG_016465.4:g.131874_131875insT
  • NM_000492.4:c.2490_2490+1insT
  • NC_000007.14:g.117592657_117592658insT

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

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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Contributors

  • Asha Deepthi: 28.10.2020

Edit History

  • Asha Deepthi: 10.08.2022
  • Asha Deepthi: 21.03.2021
  • Asha Deepthi: 28.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.