NM_000492.4:c.80G>T

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HGVS Expressions

  • NG_016465.4:g.43496G>T
  • NM_000492.4:c.80G>T
  • NP_000483.3:p.Gly27Val
  • NC_000007.14:g.117504279G>T

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397508797

Clinvar

495958

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.79.1United Arab Emirates2Likely PathogenicCystic FibrosisHafiz et al. 2023 Patient died at 27 years of age due to r...
219700.79.2United Arab Emirates2Likely PathogenicCystic FibrosisHafiz et al. 2023 Sister of 219700.79.1
219700.G.14.4United Arab EmiratesLikely PathogenicCystic FibrosisShafiq et al.2021 This variant was reported in 5% of patie...
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Contributors

  • Asha Deepthi: 01.06.2022

Edit History

  • Sayeeda Hana: 15.07.2024
  • Pratibha Nair: 27.12.2022
  • Asha Deepthi: 02.06.2022
  • Asha Deepthi: 01.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.