NM_012160.4:c.1067del

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  2. NM_012160.4:c.1067del

HGVS Expressions

  • NG_033903.1:g.47545del
  • NM_012160.4:c.1067del
  • NP_036292.2:p.Gly356AlafsTer15
  • NC_000006.12:g.98905463del

Associated Genes

F-Box and Leucine-Rich Repeat Protein 4
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1554219474

Clinvar

437498

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615471.2United Arab Emirates2PathogenicMitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)Al-Shamsi et al. 2016 Three siblings died in infancy
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Contributors

  • Pratibha Nair: 17.06.2020

Edit History

  • Pratibha Nair: 07.02.2023
  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 17.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.