NM_000019.3:c.395C>G

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HGVS Expressions

  • NG_009888.1:g.18672C>G
  • NM_000019.3:c.395C>G
  • NP_000010.1:p.Ala132Gly
  • NC_000011.10:g.108135202C>G

Associated Genes

Acetyl-CoA Acetyltransferase 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1591363786

Clinvar

666480

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203750.1Lebanon2PathogenicAlpha-Methylacetoacetic AciduriaZhang et al, 2004 Patient of Armenian ethnicity
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Contributors

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 15.10.2018

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 14.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.