NM_000050.4:c.787G>A

HGVS Expressions

  • NG_011542.1:g.40692G>A
  • NM_000050.4:c.787G>A
  • NP_000041.2:p.Val263Met
  • NC_000009.12:g.130480398G>A
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Clinical Significance

Likely Pathogenic,Pathogenic

Variant Type

Substitution

Clinvar

92372

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
215700.G.2JordanLikely PathogenicCitrullinemia, ClassicAl-Jasmi at al. 2016 UAE resident(s) of Jordanian origin. Num...
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