NM_080916.3:c.427T>C

HGVS Expressions

  • NG_008044.1:g.25065T>C
  • NM_080916.3:c.427T>C
  • NP_550438.1:p.Ser143Pro
  • NC_000002.12:g.73946890T>C

Associated Genes

Deoxyguanosine Kinase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251880.2United Arab Emirates2Likely PathogenicMitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type)Al-Shamsi et al. 2016
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