NM_002693.3:c.3286C>T

HGVS Expressions

  • NG_011736.1:g.79775G>A
  • NM_002693.3:c.3286C>T
  • NP_002684.1:p.Arg1096Cys
  • NC_000015.10:g.89318737G>A

Associated Genes

Polymerase, DNA, Gamma
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

206556

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203700.G.1United Arab Emirates14Likely Pathogenic, PathogenicMitochondrial DNA Depletion Syndrome 4A (Alpers Type)Mohamed et al. 2011 7 patients from five families
203700.G.2United Arab EmiratesLikely Pathogenic, PathogenicMitochondrial DNA Depletion Syndrome 4A (Alpers Type)Al-Shamsi et al. 2014 Unknown number of patients
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