NM_001953.5:c.1190T>A

HGVS Expressions

  • NG_011860.1:g.8975T>A
  • NM_001953.5:c.1190T>A
  • NP_001944.1:p.Leu397Gln
  • NC_000022.11:g.50526111A>T

Associated Genes

Thymidine Phosphorylase
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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
603041.1.1Tunisia2Likely PathogenicMitochondrial DNA Depletion Syndrome 1 (MNGIE Type)Ammar et al. 2022 Patient "P1" in the publication
603041.1.2Tunisia2Likely PathogenicMitochondrial DNA Depletion Syndrome 1 (MNGIE Type)Ammar et al. 2022 Brother of 603041.1.1. Phenotypic variab...
603041.1.GTunisia3Ammar et al. 2022 Unaffected relatives of 603041.1.1 (pare...
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