NM_000018.4:c.1699C>T

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HGVS Expressions

  • NG_007975.1:g.9829C>T
  • NM_000018.4:c.1699C>T
  • NP_000009.1:p.Arg567Trp
  • NC_000017.11:g.7224662C>T

Associated Genes

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

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

864321651

Clinvar

219172

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201475.2Saudi Arabia2Likely PathogenicAcyl-CoA Dehydrogenase, Very Long-Chain, Deficiency ofMonies et al. 2017
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Contributors

  • Asha Deepthi: 29.11.2024

Edit History

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