NM_000492.4:c.4364C>G

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  2. NM_000492.4:c.4364C>G

HGVS Expressions

  • NG_016465.4:g.206246C>G
  • NM_000492.4:c.4364C>G
  • NP_000483.3:p.Ser1455Ter
  • NC_000007.14:g.117667029C>G

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121909043

Clinvar

7223

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.78United Arab Emirates; Yem...2Likely PathogenicCystic FibrosisFrancis et al. 2023 Emirati of Yemeni origin
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Contributors

  • Pratibha Nair: 25.01.2024

Edit History

  • Pratibha Nair: 25.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.