NM_000158.4:c.986A>G

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  2. NM_000158.4:c.986A>G

HGVS Expressions

  • NG_011810.1:g.124014A>G
  • NM_000158.4:c.986A>G
  • NP_000149.4:p.Tyr329Cys
  • NC_000003.12:g.81642787T>C

Associated Genes

Glycogen Branching Enzyme
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80338671

Clinvar

371439

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232500.1Lebanon2PathogenicGlycogen Storage Disease IVNair et al. 2018 Affected siblings
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Contributors

  • Pratibha Nair: 21.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 21.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.