NM_021830.5:c.1721T>C

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HGVS Expressions

  • NG_012624.1:g.8462T>C
  • NM_021830.5:c.1721T>C
  • NP_068602.2:p.Phe574Ser
  • NC_000010.11:g.100990997T>C

Associated Genes

Twinkle mtDNA Helicase
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1446585289

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
271245.3Saudi Arabia2Uncertain SignificanceMitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)Monies et al. 2017
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Contributors

  • Asha Deepthi: 15.04.2025

Edit History

  • Asha Deepthi: 15.04.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.