NM_000263.4:c.1694G>T

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HGVS Expressions

  • NG_011552.1:g.12768G>T
  • NM_000263.4:c.1694G>T
  • NP_000254.2:p.Arg565Leu
  • NC_000017.11:g.42543700G>T

Associated Genes

N-Acetylglucosaminidase, Alpha-
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894598

Clinvar

557013

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252920.G.1United Arab Emirates8PathogenicMucopolysaccharidosis Type IIIBAl-Jasmi et al. 2013; Saleh et al. 2021 3 blood relatives from one Emirati tribe...
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Contributors

  • Sayeeda Hana: 24.09.2021

Edit History

  • Asha Deepthi: 07.12.2022
  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 24.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.