NM_001698.2:c.589C>T

HGVS Expressions

  • NG_008017.1:g.68932C>T
  • NM_001698.2:c.589C>T
  • NP_001689.1:p.Arg197Ter
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Genomic Location

Chr9:91297993

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

9056

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250950.2.1Morocco2Pathogenic3-Methylglutaconic Aciduria, Type IDuran et al, 1982; IJlst et al, 2002
250950.2.2Morocco2Pathogenic3-Methylglutaconic Aciduria, Type IDuran et al, 1982; IJlst et al, 2002 Brother of 250950.2.1
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