NM_004614.5:c.504C>G

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  2. NM_004614.5:c.504C>G

HGVS Expressions

  • NG_016862.1:g.37590C>G
  • NM_004614.5:c.504C>G
  • NP_004605.4:p.Ile168Met
  • NC_000016.10:g.66517823G>C

Associated Genes

Thymidine Kinase, Mitochondrial
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2144356527

Clinvar

1675627

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609560.7Lebanon2Likely PathogenicMitochondrial DNA Depletion Syndrome 2 (Myopathic Type)Al-Fata et al. 2023
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Contributors

  • Pratibha Nair: 13.03.2023

Edit History

  • Pratibha Nair: 13.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.