NM_000152.3:c.935T>G

HGVS Expressions

  • NG_009822.1:g.11321T>G
  • NM_000152.3:c.935T>G
  • NP_000143.2:p.Leu312Arg
  • NC_000017.11:g.80107876T>G

Associated Genes

Glucosidase, Alpha, Acid
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.5Lebanon2Likely PathogenicGlycogen Storage Disease IIHermans et al. 2004
© CAGS 2024. All rights reserved.