NM_000436.4:c.1286dup

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HGVS Expressions

  • NG_011823.1:g.113527dup
  • NM_000436.4:c.1286dup
  • NP_000427.1:p.Leu429PhefsTer23
  • NC_000005.10:g.41762165dup

Associated Genes

3-Oxoacid CoA Transferase 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245050.1.1United Arab Emirates2NAPathogenicSuccinyl-CoA:3-Oxoacid-CoA Transferase DeficiencyYousef et al. 2020 Proband
245050.1.2United Arab Emirates1NAYousef et al. 2020 Father of 245050.1.1
245050.1.3United Arab Emirates1NAYousef et al. 2020 Mother of 245050.1.1
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Contributors

  • Asha Deepthi: 04.03.2022

Edit History

  • Asha Deepthi: 04.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.