NM_000456.2:c.1233_1234del

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  2. NM_000456.2:c.1233_1234del

HGVS Expressions

  • NG_008136.1:g.12364_12365del
  • NM_000456.2:c.1233_1234del
  • NP_000447.2:p.Val412ArgfsTer3

Associated Genes

Sulfite Oxidase
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Genomic Location

chr12:56004622-56004623

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272300.2.1Sudan2PathogenicSulfocysteinuriaSalih et al. 2013
272300.2.2Sudan2PathogenicSulfocysteinuriaSalih et al. 2013 Brother of 272300.2.1
272300.2.3Sudan2PathogenicSulfocysteinuriaSalih et al. 2013 Brother of 272300.2.1
272300.2.4Sudan1Salih et al. 2013 Father of 272300.2.1
272300.2.5Sudan1Salih et al. 2013 Mother of 272300.2.1
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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.