NM_001040716.2:c.1480C>T

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HGVS Expressions

  • NG_008319.1:g.110105C>T
  • NM_001040716.2:c.1480C>T
  • NP_001035806.1:p.Gln494Ter
  • NC_000011.10:g.66853272G>A

Associated Genes

Pyruvate Carboxylase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1945617407

Clinvar

982091

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266150.1Saudi Arabia2PathogenicPyruvate Carboxylase DeficiencyMonies et al. 2017
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Contributors

  • Asha Deepthi: 07.01.2025

Edit History

  • Asha Deepthi: 07.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.