NM_000492.4:c.575A>T

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HGVS Expressions

  • NG_016465.4:g.73578A>T
  • NM_000492.4:c.575A>T
  • NP_000483.3:p.Asp192Val
  • NC_000007.14:g.117534361A>T

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397508758

Clinvar

633172

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.14.5United Arab EmiratesNANALikely PathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
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Contributors

  • Asha Deepthi: 02.06.2022

Edit History

  • Pratibha Nair: 27.12.2022
  • Asha Deepthi: 02.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.