NM_014049.5:c.1240C>T

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HGVS Expressions

  • NG_017064.1:g.31722C>T
  • NM_014049.5:c.1240C>T
  • NP_054768.2:p.Arg414Cys
  • NC_000003.12:g.128906211C>T

Associated Genes

Acyl-CoA Dehydrogenase Family, Member 9
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

777282696

Clinvar

420048

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611126.1Saudi Arabia2Likely PathogenicMitochondrial Complex I Deficiency, Nuclear Type 20Al-Hassnan et al. 2020
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Contributors

    Edit History

    • Pratibha Nair: 23.05.2024
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.