NM_021830.5:c.1003C>A

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  2. NM_021830.5:c.1003C>A

HGVS Expressions

  • NC_000010.11:g.100989213C>A
  • NM_021830.5:c.1003C>A
  • NP_068602.2:p.Pro335Thr

Associated Genes

Twinkle mtDNA Helicase
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Genomic Location

chr10:100989213

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554887028

Clinvar

426102

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
271245.1Lebanon2Likely PathogenicMitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)Nair et al. 2018
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Contributors

  • Pratibha Nair: 22.04.2020

Edit History

  • Pratibha Nair: 22.04.2020
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© CAGS 2024. All rights reserved.