NM_000404.4:c.245+1G>A

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HGVS Expressions

  • NG_009005.1:g.29660G>A
  • NM_000404.4:c.245+1G>A

Associated Genes

Galactosidase, Beta-1
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Genomic Location

chr3:33072543

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

778423653

Clinvar

417873

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230500.2Saudi Arabia1Likely PathogenicGM1-Gangliosidosis, Type IGeorgiou et al. 2004
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Contributors

  • Sayeeda Hana: 18.08.2020

Edit History

  • Sayeeda Hana: 18.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.