NM_000492.4:c.[350G>A;1210-12=]

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HGVS Expressions

  • NG_016465.4:g.[70192G>A;87846_87852=]
  • NM_000492.4:c.[350G>A;1210-12=]
  • NC_000007.14:g.[117530975G>A;117548629_117548635=]

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Haplotype

dbSNP

78655421 1805177

Clinvar

7109

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.73Lebanon22.5PathogenicCystic FibrosisFarra et al, 2010 CF patient from family '9' in the public...
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Contributors

  • Asha Deepthi: 02.11.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Asha Deepthi: 18.01.2021
  • Asha Deepthi: 02.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.