NM_000152.4:c.2015G>A

HGVS Expressions

  • NG_009822.1:g.16447G>A
  • NM_000152.4:c.2015G>A
  • NP_000143.2:p.Arg672Gln
  • NC_000017.11:g.80113002G>A

Associated Genes

Glucosidase, Alpha, Acid
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

371126

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.11United Arab Emirates2PathogenicGlycogen Storage Disease IISaleh et al. 2021
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