NM_000050.4:c.535T>C

HGVS Expressions

  • NG_011542.1:g.31167T>C
  • NM_000050.4:c.535T>C
  • NP_000041.2:p.Trp179Arg
  • NC_000009.12:g.130470873T>C
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

6335

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
215700.G.1United Arab EmiratesPathogenicCitrullinemia, ClassicAl-Shamsi et al. 2014 Unknown number of patients with Citrulli...
215700.G.3SyriaLikely PathogenicCitrullinemia, ClassicAl-Jasmi at al. 2016 UAE resident(s) of Syrian origin. Number...
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