NC_012920.1:m.14568C>T

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  2. NC_012920.1:m.14568C>T

HGVS Expressions

  • NC_012920.1:m.14568C>T
  • 65515

Associated Genes

Complex I, Subunit ND6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

397515506

Clinvar

65515

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
535000.1.1LebanonPathogenicLeber Optic AtrophyRizk et al. 2020
535000.1.2LebanonPathogenicLeber Optic AtrophyRizk et al. 2022 Maternal cousin of 535000.1.1
535000.2LebanonLikely PathogenicLeber Optic AtrophyRizk et al. 2020
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Contributors

  • Pratibha Nair: 14.01.2021

Edit History

  • Pratibha Nair: 13.03.2023
  • Pratibha Nair: 14.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.