NM_144772.3:c.641T>A

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  2. NM_144772.3:c.641T>A

HGVS Expressions

  • NG_052542.1:g.6767T>A
  • NM_144772.3:c.641T>A
  • NP_658985.2:p.Ile214Asn
  • NC_000001.11:g.156593532T>A

Associated Genes

NAD(P)HX Epimerase
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617186.1.1Tunisia2Uncertain SignificanceEncephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1Maalej et al. 2022
617186.1.2Tunisia1Maalej et al. 2022 Father of 617186.1.1
617186.1.3Tunisia1Maalej et al. 2022 Mother of 617186.1.1
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Contributors

  • Asha Deepthi: 13.03.2025

Edit History

  • Asha Deepthi: 13.03.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.