NM_000492.3:c.1993A>T

  1. Home
  2. NM_000492.3:c.1993A>T

HGVS Expressions

  • NG_016465.4:g.131377A>T
  • NM_000492.3:c.1993A>T
  • NP_000483.3:p.Thr665Ser
  • NC_000007.14:g.117592160A>T

Associated Genes

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

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1177201180

Clinvar

993031

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.47Tunisia1NALikely PathogenicCystic FibrosisMessaoud et al. 2005
Download Table

Contributors

    Edit History

    • Pratibha Nair: 12.09.2022
    • Asha Deepthi: 09.08.2022
    • Asha Deepthi: 21.03.2021
    • Asha Deepthi: 30.04.2020
    • Asha Deepthi: 29.04.2020
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.