NM_000492.4:c.3472C>T

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HGVS Expressions

  • NG_016465.4:g.166742C>T
  • NM_000492.4:c.3472C>T
  • NP_000483.3:p.Arg1158Ter
  • NC_000007.14:g.117627525C>T

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

79850223

Clinvar

7144

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.76United Arab Emirates1NALikely PathogenicCystic FibrosisFrossard et al. 2000b Patient had milder form of cystic fibros...
219700.G.14.5United Arab EmiratesNANAPathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
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Contributors

  • Asha Deepthi: 02.06.2022

Edit History

  • Asha Deepthi: 09.08.2022
  • Asha Deepthi: 02.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.