NM_000108.5:c.685G>T

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HGVS Expressions

  • NG_008045.1:g.29366G>T
  • NM_000108.5:c.685G>T
  • NP_000099.2:p.Gly229Cys
  • NC_000007.14:g.107915506G>T

Associated Genes

Dihydrolipoamide Dehydrogenase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

121964990

Clinvar

11966

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
246900.1.1Palestine2PathogenicDihydrolipoamide Dehydrogenase DeficiencyHong et al. 2003 The patient had two older siblings that ...
246900.1.2Palestine2PathogenicDihydrolipoamide Dehydrogenase DeficiencyHong et al. 2003 Brother of 246900.1.1
246900.5United Arab Emirates2Likely PathogenicDihydrolipoamide Dehydrogenase DeficiencyAl-Jasmi et al. 2016
246900.G.1United Arab Emirates4PathogenicDihydrolipoamide Dehydrogenase DeficiencyAl-Shamsi et al. 2014 Group of 2 patients
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Contributors

  • Sayeeda Hana: 02.09.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 30.06.2022
  • Sayeeda Hana: 02.09.2020
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© CAGS 2024. All rights reserved.