NM_015214.2:c.1249_1891del

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HGVS Expressions

  • NG_033875.1:g.23219_26638del
  • NM_015214.2:c.1249_1891del
  • NC_000008.11:g.38249709_38253128del

Associated Genes

DDHD Domain-Containing Protein 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

183317

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615033.2Saudi Arabia2Likely PathogenicSpastic Paraplegia 54, Autosomal RecessiveAlazami et al. 2015
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Contributors

  • Pratibha Nair: 18.05.2023

Edit History

  • Pratibha Nair: 18.05.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.