NM_021830.5:c.1198C>T

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HGVS Expressions

  • NG_012624.1:g.6873C>T
  • NM_021830.5:c.1198C>T
  • NP_068602.2:p.Arg400Cys
  • NC_000010.11:g.100989408C>T

Associated Genes

Twinkle mtDNA Helicase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

757068910

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
271245.2United Arab Emirates2Likely PathogenicMitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)Al-Shamsi et al. 2016 Has two cousins with Leigh disease
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Contributors

  • Pratibha Nair: 13.07.2020

Edit History

  • Pratibha Nair: 02.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 13.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.