NM_001079866.1:c.385G>A

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HGVS Expressions

  • NG_033099.1:g.3071C>T
  • NM_001079866.1:c.385G>A
  • NP_001073335.1:p.Gly129Arg
  • NC_000002.12:g.218661470G>A

Associated Genes

BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1057521059

Clinvar

381524

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603358.1United Arab Emirates2PathogenicMitochondrial Complex III Deficiency, Nuclear Type 1; GRACILE SyndromeSaleh et al. 2021 Authors not sure whther to diagnose with...
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Contributors

  • Pratibha Nair: 05.10.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 02.11.2021
  • Pratibha Nair: 05.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.