NM_002225.5:c.1222G>A

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  2. NM_002225.5:c.1222G>A

HGVS Expressions

  • NG_011986.2:g.17729G>A
  • NM_002225.5:c.1222G>A
  • NP_002216.3:p.Glu408Lys
  • NC_000015.10:g.40418213G>A

Associated Genes

Isovaleryl-CoA Dehydrogenase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

755693286

Clinvar

1444290

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243500.6Egypt2PathogenicIsovaleric AcidemiaHertecant et al. 2012 The patient had an older affected brothe...
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Contributors

  • Sayeeda Hana: 26.08.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.