NM_004614.5:c.173A>G

HGVS Expressions

  • NG_016862.1:g.13476A>G
  • NM_004614.5:c.173A>G
  • NP_004605.4:p.Asn58Ser
  • NC_000016.10:g.66541937T>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

38978

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609560.5United Arab Emirates2PathogenicMitochondrial DNA Depletion Syndrome 2 (Myopathic Type)Wang et al. 2018
609560.6United Arab Emirates2PathogenicMitochondrial DNA Depletion Syndrome 2 (Myopathic Type)Wang et al. 2018
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