NM_014241.4:c.785-1G>T

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HGVS Expressions

  • NG_041789.1:g.31928G>T
  • NM_014241.4:c.785-1G>T
  • NP_055056.3:p.?
  • NC_000010.11:g.17590447C>A

Associated Genes

3-Hydroxyacyl-Coa Dehydratase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1698409

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255310.3Saudi Arabia2Likely PathogenicMyopathy, Congenital, NonprogressiveAbbasi-Moheb et al. 2021 Proband
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Contributors

  • Sami Bizzari: 19.01.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 29.09.2022
  • Rahila Mir: 07.02.2022
  • Sami Bizzari: 19.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.