NM_000543.4:c.1244C>T

  1. Home
  2. NM_000543.4:c.1244C>T

HGVS Expressions

  • NG_011780.1:g.7944C>T
  • NM_000543.4:c.1244C>T
  • NP_000534.3:p.Ala415Val
  • NC_000011.10:g.6393368C>T

Associated Genes

Sphingomyelin Phosphodiesterase 1, Acid Lysosomal
Back to search Result
CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1451199796

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607616.1United Arab Emirates2Likely PathogenicNiemann-Pick Disease, Type BBen-Rebeh et al. 2012
607616.2United Arab Emirates2PathogenicNiemann-Pick Disease, Type BAl-Jasmi et al. 2013
Download Table

Contributors

  • Sayeeda Hana: 09.06.2021

Edit History

  • Sami Bizzari: 03.06.2022
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 09.06.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.