NM_000284.4:c.787C>G

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  2. NM_000284.4:c.787C>G

HGVS Expressions

  • NG_016781.1:g.16821C>G
  • NP_000275.1:p.Arg263Gly
  • NC_000023.11:g.19355713C>G

Associated Genes

Pyruvate Dehydrogenase, Alpha-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137853259

Clinvar

10878

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312170.1United Arab Emirates1PathogenicPyruvate Dehydrogenase E1-Alpha DeficiencyAl-Shamsi et al. 2016; Saleh et al. 2021
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Contributors

  • Pratibha Nair: 13.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 31.01.2022
  • Pratibha Nair: 13.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.