NM_000492.3:c.2634_2641del

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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

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

397508411

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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Contributors

    Edit History

    • Asha Deepthi: 09.08.2022
    • Asha Deepthi: 21.03.2021
    • Sayeeda Hana: 04.10.2020
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 29.04.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.