NM_032520.5:c.499dup

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HGVS Expressions

  • NG_016985.1:g.15395dup
  • NM_032520.5:c.499dup
  • NP_115909.1:p.Leu167ProfsTer32
  • NC_000016.10:g.1362293dup

Associated Genes

N-Acetylglucosamine-1-Phosphotransferase, Gamma Subunit
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

756959430

Clinvar

437454

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252605.G.1United Arab Emirates10PathogenicMucolipidosis III GammaAl-Jasmi et al. 2013 5 siblings with mild skeletal involvemen...
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Contributors

  • Sayeeda Hana: 26.09.2021

Edit History

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