NM_000456.3:c.520del

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  2. NM_000456.3:c.520del

HGVS Expressions

  • NG_008136.1:g.11651del
  • NM_000456.3:c.520del
  • NP_001027558.1:p.Asp174fs

Associated Genes

Sulfite Oxidase
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Genomic Location

chr12:56003909

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1565798380

Clinvar

619592

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272300.1.1Saudi Arabia2PathogenicSulfocysteinuriaSeidahmed et al. 2005 The patient had two maternal cousins wit...
272300.1.2Saudi Arabia1Seidahmed et al. 2005 Father of 272300.1.1
272300.1.3Saudi Arabia1Seidahmed et al. 2005 Mother of 272300.1.1
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Contributors

  • Sayeeda Hana: 06.08.2020

Edit History

  • Sayeeda Hana: 06.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.