NM_000543.5:c.1267C>T

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HGVS Expressions

  • NG_011780.1:g.8196C>T
  • NM_000543.5:c.1267C>T
  • NP_000534.3:p.His423Tyr
  • NC_000011.10:g.6393620C>T

Associated Genes

Sphingomyelin Phosphodiesterase 1, Acid Lysosomal
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

120074126

Clinvar

2992

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607616.3Saudi Arabia2PathogenicNiemann-Pick Disease, Type BMonies et al. 2017
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Contributors

  • Asha Deepthi: 27.11.2024

Edit History

  • Asha Deepthi: 27.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.