NM_000404.4:c.1768C>T

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  2. NM_000404.4:c.1768C>T

HGVS Expressions

  • NG_009005.1:g.104892C>T
  • NM_000404.4:c.1768C>T
  • NP_000395.3:p.Arg590Cys
  • NC_000003.12:g.32997311G>A

Associated Genes

Galactosidase, Beta-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

794727165

Clinvar

194596

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230500.G.2United Arab Emirates14PathogenicGM1-Gangliosidosis, Type IAl-Jasmi et al. 2013 7 patients from an Emirati family
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Contributors

  • Sayeeda Hana: 25.09.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 25.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.