NM_000492.3:c.11C>A

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HGVS Expressions

  • NG_016465.4:g.19322C>A
  • NM_000492.3:c.11C>A
  • NP_000483.3:p.Ser4Ter
  • NC_000007.14:g.117480105C>A

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397508173

Clinvar

53211

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.8Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.11Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.G.13.4Lebanon30.063PathogenicCystic FibrosisFarra et al, 2010 Mutation identified in 7% of 44 alleles ...
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Contributors

    Edit History

    • Asha Deepthi: 10.08.2022
    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 02.11.2020
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 28.04.2020
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    © CAGS 2024. All rights reserved.