NM_000492.3:c.1911del

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HGVS Expressions

  • NG_016465.4:g.131295del
  • NM_000492.3:c.1911del
  • NP_000483.3:p.Gln637fs
  • NC_000007.14:g.117592078del

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1554389296

Clinvar

35834

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.59Saudi Arabia2NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF01' in the publication
219700.72Lebanon22.5PathogenicCystic FibrosisFarra et al, 2010 CF patient from family '8' in the public...
219700.G.1.4Bahrain10NAPathogenicCystic FibrosisEskandarani, 2002 5 patients from 4 families; 2 of these p...
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Contributors

    Edit History

    • 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.