NM_000492.3:c.1029del

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HGVS Expressions

  • NG_016465.4:g.79476del
  • NM_000492.3:c.1029del
  • NP_000483.3:p.Phe342_Cys343insTer
  • NC_000007.14:g.117540259del

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

121908774

Clinvar

53170

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.2Bahrain1NAPathogenicCystic FibrosisEskandarani, 2002 Compound heterozygous patient
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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.