NM_000492.3:c.3717+1G>A

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HGVS Expressions

  • NG_016465.4:g.166988G>A
  • NM_000492.3:c.3717+1G>A
  • NC_000007.14:g.117627771G>A

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

750558115

Clinvar

632759

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.67Lebanon1NAPathogenicCystic FibrosisEl-Rifai et al, 2011 Patient's mother has protein S deficienc...
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Contributors

  • Asha Deepthi: 29.04.2020

Edit History

  • Asha Deepthi: 21.03.2021
  • Asha Deepthi: 30.04.2020
  • Asha Deepthi: 29.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.