NM_000170.3:c.1402-2A>T

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HGVS Expressions

  • NM_000170.3:c.1402-2A>T
  • NP_000161.2:p.?
  • NC_000009.12:g.6592225T>A

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
605899.4United Arab Emirates2Likely PathogenicGlycine EncephalopathyElabd et al. 2021 Patient has two similarly affected sibli...
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Contributors

  • Sami Bizzari: 31.08.2022

Edit History

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