NM_054012.4:c.535T>C

HGVS Expressions

  • NG_011542.1:g.31167T>C
  • NM_054012.4:c.535T>C
  • NP_000041.2:p.Trp179Arg
  • NC_000009.12:g.130470873T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

6335

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215700.G.1United Arab EmiratesPathogenicCitrullinemia, ClassicAl-Shamsi et al. 2014 Unknown number of patients with Citrulli...
215700.G.3SyriaNALikely PathogenicCitrullinemia, ClassicAl-Jasmi at al. 2016 UAE resident(s) of Syrian origin. Number...
215700.G.6Lebanon4+PathogenicCitrullinemia, ClassicDaou et al. 2023 Family with unknown number of affected m...
215700.G.7Lebanon2+PathogenicCitrullinemia, ClassicDaou et al. 2023 Family with unknown number of affected m...
603470.G.1Qatar80.009Likely PathogenicDevadoss Gandhi et al. 2024 8 individuals from a study of 14,060 Qat...
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