NM_000492.3:c.579+1G>T

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HGVS Expressions

  • NG_016465.4:g.73583G>T
  • NM_000492.3:c.579+1G>T
  • NC_000007.14:g.117534366G>T

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

77188391

Clinvar

38494

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.6.9Tunisia20NAPathogenicCystic FibrosisMessaoud et al. 2005 10 patients from unrelated families
219700.G.6.10Tunisia3NAPathogenicCystic FibrosisMessaoud et al. 2005 3 patients from unrelated families
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 28.04.2020
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    © CAGS 2024. All rights reserved.