NM_000170.3:c.1384C>G

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  2. NM_000170.3:c.1384C>G

HGVS Expressions

  • NG_016397.1:g.57825C>G
  • NM_000170.3:c.1384C>G
  • NP_000161.2:p.Leu462Val
  • NC_000009.12:g.6592868G>C

Associated Genes

Glycine Decarboxylase
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

73400312

Clinvar

367193

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605899.4United Arab Emirates2Likely BenignElabd 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.