NM_001278716.2:c.1444C>T

HGVS Expressions

  • NG_033903.2:g.77273C>T
  • NM_001278716.2:c.1444C>T
  • NP_001265645.1:p.Arg482Trp
  • NC_000006.12:g.98875673G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

66093

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615471.6.1Saudi Arabia2Likely PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Alazami et al. 2015; Gai et al. 2013
615471.6.2Saudi Arabia2Likely PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Gai et al. 2013 Sibling of 615471.6.1
615471.6.3Saudi Arabia2Likely PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Gai et al. 2013 Sibling of 615471.6.1
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