NM_024312.4:c.3503_3504del

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HGVS Expressions

  • NG_021243.1:g.82397_82398del
  • NM_024312.4:c.3503_3504del
  • NP_077288.2:p.Leu1168GlnfsTer5
  • NC_000012.12:g.101753472_101753473del

Associated Genes

N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta Subunits
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

34002892

Clinvar

2771

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252500.1United Arab Emirates2PathogenicMucolipidosis II Alpha/BetaAli et al. 2011
252500.2United Arab Emirates2PathogenicMucolipidosis II Alpha/BetaAl-Jasmi et al. 2013 Infantile onset
252500.3Saudi Arabia2NAPathogenicMucolipidosis II Alpha/BetaMaddirevula et al. 2018
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Contributors

  • Sayeeda Hana: 20.09.2021

Edit History

  • Sami Bizzari: 07.02.2023
  • Asha Deepthi: 06.12.2021
  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 20.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.