NM_000492.4:c.3883_3884insG

  1. Home
  2. NM_000492.4:c.3883_3884insG

HGVS Expressions

  • NG_016465.4:g.192068_192069insG
  • NM_000492.4:c.3883_3884insG
  • NP_000483.3:p.Ile1295Serfs*7
  • NC_000007.14:g.117652851_117652852insG

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Clinvar

981112

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.69.1Lebanon22.5PathogenicCystic FibrosisFarra et al, 2008; Farra et al, 2010 Proband
219700.69.2Lebanon22.5PathogenicCystic FibrosisFarra et al, 2008; Farra et al, 2010 Brother of the proband
219700.69.3Lebanon12.5Farra et al, 2008; Farra et al, 2010 Father of the proband
219700.69.4Lebanon12.5Farra et al, 2008; Farra et al, 2010 Mother of the proband
Download Table

Contributors

  • Asha Deepthi: 01.11.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Asha Deepthi: 21.03.2021
  • Asha Deepthi: 02.11.2020
  • Asha Deepthi: 01.11.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.