NM_000170.3:c.2943A>C

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HGVS Expressions

  • NM_000170.3:c.2943A>C
  • NP_000161.2:p.Lys981Asn
  • NC_000009.12:g.6533137T>G

Associated Genes

Glycine Decarboxylase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605899.7Syria2Likely PathogenicGlycine EncephalopathyElabd et al. 2021 1 similarly affected sibling with a simi...
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Contributors

  • Sami Bizzari: 31.08.2022

Edit History

  • Sami Bizzari: 06.09.2022
  • Sami Bizzari: 31.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.