NM_003907.3:c.407G>A

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HGVS Expressions

  • NG_015826.1:g.7685G>A
  • NM_003907.3:c.407G>A
  • NP_003898.2:p.Arg136His

Associated Genes

Eukaryotic Translation Initiation Factor 2B, Subunit 5
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Genomic Location

chr3:184137706

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

958193703

Clinvar

802032

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603896.1Lebanon2PathogenicLeukoencephalopathy with Vanishing White MatterNair et al. 2018
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Contributors

  • Pratibha Nair: 21.04.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Pratibha Nair: 21.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.