NM_000492.3:c.3879_3882ATTT[1]

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HGVS Expressions

  • NG_016465.4:g.192064_192067ATTT[1]
  • NM_000492.3:c.3879_3882ATTT[1]
  • NP_000483.3:p.Ile1295fs
  • NC_000007.14:g.117652847_117652850ATTT[1]

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

387906373

Clinvar

53838

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.5Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '234' in the publica...
219700.13Lebanon2NAPathogenicCystic FibrosisDesgeorges et al. 1997 Patient from family '261' in the publica...
219700.41Palestine1NAPathogenicCystic FibrosisShoshani et al. 1994 Compound heterozygous patient of Arab or...
219700.G.13.5Lebanon20.075PathogenicCystic FibrosisFarra et al, 2010 CF patients from families '1 & 13' in th...
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Contributors

    Edit History

    • Asha Deepthi: 10.08.2022
    • Asha Deepthi: 21.03.2021
    • Asha Deepthi: 02.11.2020
    • Sayeeda Hana: 04.10.2020
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 29.04.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.