NM_000387.5:c.82G>T

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HGVS Expressions

  • NG_008171.1:g.5184G>T
  • NM_000387.5:c.82G>T
  • NP_000378.1:p.Gly28Cys
  • NC_000003.12:g.48898713C>A

Associated Genes

Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

747335514

Clinvar

1302740

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212138.1United Arab Emirates2PathogenicCarnitine-Acylcarnitine Translocase Deficiency; CACTDSaleh et al. 2021 Affected siblings
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Contributors

  • Pratibha Nair: 27.09.2021

Edit History

  • Pratibha Nair: 02.01.2023
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 27.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.