NM_012160.4:c.1304G>T

HGVS Expressions

  • NG_033903.1:g.53726G>T
  • NM_012160.4:c.1304G>T
  • NP_036292.2:p.Arg435Leu
  • NC_000006.12:g.98899281C>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

437476

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615471.1.1United Arab Emirates2Likely PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Al-Shamsi et al. 2016 Patient with mitochondrial DNA Depletion...
615471.1.2United Arab Emirates2Likely PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Al-Shamsi et al. 2016 Sibling of 615471.1.1
615471.4United Arab Emirates2PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Huemer et al. 2015
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