NM_020247.5:c.1744dup

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HGVS Expressions

  • NG_012825.2:g.94002dup
  • NM_020247.5:c.1744dup
  • NP_064632.2:p.Ser582LysfsTer148
  • NC_000001.11:g.226986537dup

Associated Genes

Coenzyme Q8A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1553281318

Clinvar

183336

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612016.1Saudi Arabia2Likely PathogenicCoenzyme Q10 Deficiency, Primary, 4Alazami et al. 2015
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Contributors

  • Pratibha Nair: 21.03.2023

Edit History

  • Pratibha Nair: 21.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.