NM_000492.3:c.3196C>T

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HGVS Expressions

  • NG_016465.4:g.150854C>T
  • NM_000492.3:c.3196C>T
  • NP_000483.3:p.Arg1066Cys
  • NC_000007.14:g.117611637C>T

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

78194216

Clinvar

7162

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.45Tunisia1NAPathogenicCystic FibrosisMessaoud et al. 2005
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Contributors

    Edit History

    • Asha Deepthi: 21.03.2021
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 29.04.2020
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    © CAGS 2024. All rights reserved.