NM_000152.4:c.670C>T

HGVS Expressions

  • NG_009822.1:g.9317C>T
  • NM_000152.4:c.670C>T
  • NP_000143.2:p.Arg224Trp
  • NC_000017.11:g.80105872C>T

Associated Genes

Glucosidase, Alpha, Acid
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

189188

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.7Lebanon1PathogenicGlycogen Storage Disease IIZouheir Habbal et al, 2013 Patient with both Pompe disease and Alka...
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