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

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HGVS Expressions

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

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

77188391

Clinvar

801157

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.54Saudi Arabia2NALikely PathogenicCystic FibrosisBanjar, 2001; Banjar, 2004 Patient comorbid for cystic fibrosis and...
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Contributors

    Edit History

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