NC_012920.1:m.7299A>G

HGVS Expressions

  • NC_012920.1:m.7299A>G
  • YP_003024028.1:p.Met466Val
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

692730

Epidemiology in the Arab World

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