NM_005932.4:c.1027A>G

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HGVS Expressions

  • NG_052977.1:g.32121A>G
  • NM_005932.4:c.1027A>G
  • NP_005923.3:p.Lys343Glu
  • NC_000013.11:g.23862328T>C

Associated Genes

Mitochondrial Intermediate Peptidase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1057518741

Clinvar

208632

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617228.1United Arab Emirates2Likely PathogenicCombined Oxidative Phosphorylation Deficiency 31Al-Shamsi et al. 2016
617622.1.1Saudi Arabia2Likely PathogenicJoubert Syndrome 30Van De Weghe et al. 2017 Proband
617622.1.2Saudi Arabia1Van De Weghe et al. 2017 Healthy father of the proband
617622.1.3Saudi Arabia1Van De Weghe et al. 2017 Healthy mother of the proband
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Contributors

  • Pratibha Nair: 08.06.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Sami Bizzari: 13.09.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 08.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.