NM_054012.4:c.847G>A

HGVS Expressions

  • NG_011542.1:g.49635G>A
  • NM_054012.4:c.847G>A
  • NP_446464.1:p.Glu283Lys
  • NC_000009.12:g.130489341G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

430139

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215700.G.4.1Syria4+PathogenicCitrullinemia, ClassicDaou et al. 2023 Family with unknown number of affected m...
215700.G.4.2Lebanon2Daou et al. 2023 Father and Mother of 215700.G.4.1
215700.G.8Iraq4+PathogenicCitrullinemia, ClassicDaou et al. 2023 Family with unknown number of affected m...
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