NM_000404.4:c.451G>T

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  2. NM_000404.4:c.451G>T

HGVS Expressions

  • NG_009005.1:g.33967G>T
  • NM_000404.4:c.451G>T
  • NP_000395.3:p.Asp151Tyr
  • NC_000003.12:g.33068236C>A

Associated Genes

Galactosidase, Beta-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

375582374

Clinvar

1300015

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230500.3United Arab Emirates2Likely PathogenicGM1-Gangliosidosis, Type IGeorgiou et al. 2004
230500.6United Arab Emirates2PathogenicGM1-Gangliosidosis, Type IMohamed et al. 2020
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Contributors

  • Sayeeda Hana: 17.08.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 17.02.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 18.08.2020
  • Sayeeda Hana: 17.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.