NM_015087.5:c.1450dup

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HGVS Expressions

  • NG_011559.2:g.60921dup
  • NM_015087.5:c.1450dup
  • NP_055902.1:p.Thr484AsnfsTer13
  • NC_000013.11:g.36314260dup

Associated Genes

Spartin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

730882198

Clinvar

183277

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
275900.2Oman2Likely PathogenicSpastic Paraplegia 20, Autosomal RecessiveAlazami et al. 2015
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Contributors

  • Pratibha Nair: 21.03.2023

Edit History

  • Pratibha Nair: 21.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.