NM_007347.5:c.3214_3215del

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HGVS Expressions

  • NG_031875.2:g.97473_97474del
  • NM_007347.5:c.3214_3215del
  • NP_031373.2:p.Leu1072AlafsTer10
  • NC_000015.10:g.51001144_51001145del

Associated Genes

Adaptor-Related Protein Complex 4, Epsilon-1 Subunit
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

757657323

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613744.1United Arab Emirates2Likely PathogenicSpastic Paraplegia 51, Autosomal RecessiveSaleh et al. 2021 Similarly affected cousin
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Contributors

  • Pratibha Nair: 18.01.2022

Edit History

  • Sami Bizzari: 07.02.2023
  • Rahila Mir: 08.02.2022
  • Pratibha Nair: 18.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.