NM_000492.3:c.1646G>A

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HGVS Expressions

  • NG_016465.4:g.127017G>A
  • NM_000492.3:c.1646G>A
  • NP_000483.3:p.Ser549Asn
  • NC_000007.14:g.117587800G>A

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Drug Response, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908755

Clinvar

7116

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.70Lebanon11.3PathogenicCystic FibrosisFarra et al, 2010 Compound heterozygous CF patient from fa...
219700.G.2.2KuwaitNANAPathogenicCystic FibrosisSamilchuk, 2005 Unknown number of patients
219700.G.14.5United Arab EmiratesNANAPathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
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Contributors

    Edit History

    • Asha Deepthi: 09.08.2022
    • Asha Deepthi: 02.06.2022
    • Asha Deepthi: 21.03.2021
    • Asha Deepthi: 02.11.2020
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 29.04.2020
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    © CAGS 2024. All rights reserved.