NM_002225.5:c.1184G>A

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HGVS Expressions

  • NG_011986.2:g.17691G>A
  • NM_002225.5:c.1184G>A
  • NP_002216.3:p.Arg395Gln
  • NC_000015.10:g.40418175G>A

Associated Genes

Isovaleryl-CoA Dehydrogenase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1477527791

Clinvar

529434

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243500.3United Arab Emirates2PathogenicIsovaleric AcidemiaHertecant et al. 2012
243500.4United Arab Emirates2PathogenicIsovaleric AcidemiaHertecant et al. 2012 The patient has a younger affected sibli...
243500.G.3United Arab Emirates4+PathogenicIsovaleric AcidemiaAl-Shamsi et al. 2014 Group of unknown number of IVA patients ...
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Contributors

  • Sayeeda Hana: 26.08.2020

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.