NM_000492.3:c.3497T>G

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HGVS Expressions

  • NG_016465.4:g.166767T>G
  • NM_000492.3:c.3497T>G
  • NP_000483.3:p.Phe1166Cys
  • NC_000007.14:g.117627550T>G

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

397508577

Clinvar

53761

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.49Tunisia1NAUncertain SignificanceCystic FibrosisMessaoud et al. 2005
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Contributors

    Edit History

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