NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C=]

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  2. NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C=]

HGVS Expressions

  • NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C=]
  • NC_000007.14:g.[117536515GATT(6);117536684C>T;117652877C=]

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Haplotype

dbSNP

1805171 1800503 80034486

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.15.2Egypt10.005Likely PathogenicCystic FibrosisFarhat et al. 2022 50 Egyptian CF patients
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Contributors

  • Pratibha Nair: 14.03.2023

Edit History

  • Pratibha Nair: 14.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.