NM_000019.4:c.854C>T

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HGVS Expressions

  • NG_009888.1:g.25934C>T
  • NM_000019.4:c.854C>T
  • NP_000010.1:p.Thr285Ile
  • NC_000011.10:g.108142464C>T

Associated Genes

Acetyl-CoA Acetyltransferase 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1239221388

Clinvar

666509

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203750.G.1United Arab EmiratesLikely PathogenicAlpha-Methylacetoacetic AciduriaAl-Shamsi et al. 2014 2 mutations detected in 3 patients detec...
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Contributors

  • Pratibha Nair: 15.10.2018

Edit History

  • Sami Bizzari: 24.01.2024
  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 02.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 14.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.