NM_001916.5:c.288G>T

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HGVS Expressions

  • NG_033872.1:g.5957G>T
  • NM_001916.5:c.288G>T
  • NP_001907.3:p.Trp96Cys
  • NC_000008.11:g.144095991G>T

Associated Genes

Cytochrome C1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777041

Clinvar

66019

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615453.1.1Lebanon2PathogenicMitochondrial Complex III Deficiency, Nuclear Type 6Gaignard et al. 2013
615453.1.2Lebanon1PathogenicGaignard et al. 2013 Father of 615453.1.1
615453.1.3Lebanon1PathogenicGaignard et al. 2013 Mother of 615453.1.1
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Contributors

  • Pratibha Nair: 26.03.2020

Edit History

  • Sami Bizzari: 12.09.2022
  • Pratibha Nair: 26.03.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.