NM_002225.5:c.286+5G>T

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HGVS Expressions

  • NG_011986.2:g.7511G>T
  • NM_002225.5:c.286+5G>T
  • NP_002216.3:p.?
  • NC_000015.10:g.40407995G>T

Associated Genes

Isovaleryl-CoA Dehydrogenase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

878909737

Clinvar

1176629

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243500.G.1United Arab Emirates2+Likely 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: 04.01.2023
  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.