NM_000492.3:c.2657+5G>A

  1. Home
  2. NM_000492.3:c.2657+5G>A

HGVS Expressions

  • NG_016465.4:g.142085G>A
  • NM_000492.3:c.2657+5G>A
  • NC_000007.14:g.117602868G>A

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80224560

Clinvar

38497

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.11Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.71Lebanon12.5PathogenicCystic FibrosisFarra et al, 2010 Compound heterozygous CF patient from fa...
Download Table

Contributors

    Edit History

    • Asha Deepthi: 21.03.2021
    • Asha Deepthi: 02.11.2020
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 29.04.2020
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.