NM_000018.4:c.65C>A

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HGVS Expressions

  • NG_007975.1:g.5291C>A
  • NM_000018.4:c.65C>A
  • NP_000009.1:p.Ser22Ter
  • NC_000017.11:g.7220124C>A

Associated Genes

Acyl-CoA Dehydrogenase, Very Long-Chain
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

727503788

Clinvar

166638

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201475.3Saudi Arabia2PathogenicAcyl-CoA Dehydrogenase, Very Long-Chain, Deficiency ofMonies et al. 2017
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Contributors

  • Asha Deepthi: 29.11.2024

Edit History

  • Asha Deepthi: 03.12.2024
  • Asha Deepthi: 29.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.