NM_002225.5:c.1175G>A

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HGVS Expressions

  • NG_011986.2:g.17729G>A
  • NM_002225.5:c.1175G>A
  • NP_002216.3:p.Arg392His
  • NC_000015.10:g.40418166G>A

Associated Genes

Isovaleryl-CoA Dehydrogenase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

982218848

Clinvar

623383

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243500.5.1United Arab Emirates2PathogenicIsovaleric AcidemiaHertecant et al. 2012 Index patient
243500.5.2United Arab Emirates2PathogenicIsovaleric AcidemiaHertecant et al. 2012 Sister of 243500.5.1
243500.5.3United Arab Emirates2PathogenicIsovaleric AcidemiaHertecant et al. 2012 Sister of 243500.5.1
243500.5.4United Arab Emirates2PathogenicIsovaleric AcidemiaHertecant et al. 2012 Sibling of 243500.5.1
243500.G.2United Arab Emirates2+PathogenicIsovaleric AcidemiaAl-Shamsi et al. 2014 Group of unknown number of Emirati IVA p...
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Contributors

  • Sayeeda Hana: 26.08.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.