NC_012920.1:m.13513G>A

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HGVS Expressions

  • YP_003024036.1:p.Asp393Asn
  • NC_012920.1:m.13513G>A

Associated Genes

Complex I, Subunit ND5
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

267606897

Clinvar

9702

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256000.1United Arab EmiratesPathogenicLeigh SyndromeAl-Shamsi et al. 2016 56-59% heteroplasmy
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Contributors

  • Pratibha Nair: 13.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 13.07.2020
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© CAGS 2024. All rights reserved.