NM_000543.5:c.1376A>G

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  2. NM_000543.5:c.1376A>G

HGVS Expressions

  • NG_011780.1:g.8507A>G
  • NM_000543.5:c.1376A>G
  • NP_000534.3:p.His459Arg

Associated Genes

Sphingomyelin Phosphodiesterase 1, Acid Lysosomal
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Genomic Location

chr11:6393931

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

992706

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
257200.1Lebanon2PathogenicNiemann-Pick Disease, Type AJalkh et al. 2019 Parents from the same village
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Contributors

  • Pratibha Nair: 05.11.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 05.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.