NM_002225.5:c.1172G>T

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  2. NM_002225.5:c.1172G>T

HGVS Expressions

  • NG_011986.2:g.17679G>T
  • NM_002225.5:c.1172G>T
  • NP_002216.3:p.Gly391Val

Associated Genes

Isovaleryl-CoA Dehydrogenase
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Genomic Location

chr15:40418163

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243500.1.1Saudi Arabia2Likely PathogenicIsovaleric AcidemiaKaya et al. 2013 Index patient
243500.1.2Saudi Arabia2Likely PathogenicIsovaleric AcidemiaKaya et al. 2013 Sibling of 243500.1.1
243500.1.3Saudi Arabia2Likely PathogenicIsovaleric AcidemiaKaya et al. 2013 Sibling of 243500.1.1
243500.1.4Saudi Arabia1Kaya et al. 2013 Father of 243500.1.1
243500.1.5Saudi Arabia1Kaya et al. 2013 Mother of 243500.1.1
243500.1.6Saudi Arabia1Kaya et al. 2013 Sibling of 243500.1.1
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Contributors

  • Sayeeda Hana: 26.08.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.