NC_012920.1:m.5591G>A

HGVS Expressions

  • NC_012920.1:m.5591G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

9625

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
500009.1United Arab EmiratesPathogenicMitochondrial Myopathy, Infantile, TransientAl-Shamsi et al. 2016 56-59% heteroplasmy
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