NM_000170.3:c.2512A>G

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  2. NM_000170.3:c.2512A>G

HGVS Expressions

  • NM_000170.3:c.2512A>G
  • NP_000161.2:p.Asn838Asp
  • NC_000009.12:g.6550860T>C

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
605899.6United Arab Emirates2Likely PathogenicGlycine EncephalopathyElabd et al. 2021 Co-twin was miscarried spontaneously at ...
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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.