NM_000543.4:c.762del

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HGVS Expressions

  • NG_011780.1:g.6403del
  • NM_000543.4:c.762del
  • NP_000534.3:p.Leu256Ter
  • NC_000011.10:g.6391827del

Associated Genes

Sphingomyelin Phosphodiesterase 1, Acid Lysosomal
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
257200.2United Arab Emirates2Likely PathogenicNiemann-Pick Disease, Type ASaleh et al. 2021 Similarly affected cousin
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Contributors

  • Pratibha Nair: 10.01.2022

Edit History

  • Rahila Mir: 08.02.2022
  • Pratibha Nair: 10.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.