NM_000050.4:c.1168G>A

HGVS Expressions

  • NG_011542.1:g.59839G>A
  • NM_000050.4:c.1168G>A
  • NP_000041.2:p.Gly390Arg
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Genomic Location

chr9:130499545

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

6329

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215700.1.1Morocco2PathogenicCitrullinemia, ClassicVilaseca et al. 2001 Case 1 in the publication
215700.1.2Morocco2PathogenicCitrullinemia, ClassicVilaseca et al. 2001 Brother of 215700.1.1, case 2 in the pub...
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