NM_004214.5:c.175_176insTAA

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HGVS Expressions

  • NG_047103.1:g.5497_5498insTAA
  • NM_004214.5:c.175_176insTAA
  • NP_004205.2:p.His59delinsLeuAsn
  • NC_000011.10:g.65888042_65888043insTTA

Associated Genes

Fibroblast Growth Factor, Acidic, Intracellular Binding Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

dbSNP

886037928

Clinvar

254242

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617107.1.1United Arab Emirates2PathogenicThauvin-Robinet-Faivre SyndromeAkawi et al. 2016
617107.1.2United Arab Emirates2PathogenicThauvin-Robinet-Faivre SyndromeAkawi et al. 2016 Brother of 617107.1.1
617107.1.3United Arab Emirates2PathogenicThauvin-Robinet-Faivre SyndromeAkawi et al. 2016 Sister of 617107.1.1
617107.1.G.1United Arab Emirates4Akawi et al. 2016 The parents and 2 sisters of 617107.1.1
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Contributors

  • Sayeeda Hana: 16.08.2021

Edit History

  • Sami Bizzari: 28.12.2022
  • Asha Deepthi: 07.12.2022
  • Sayeeda Hana: 16.08.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.