NM_001352514.2:c.958dup

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HGVS Expressions

  • NG_016193.2:g.58467dup
  • NM_001352514.2:c.958dup
  • NP_001339443.1:p.Gln320ProfsTer21
  • NC_000021.9:g.36936930dup

Associated Genes

Holocarboxylase Synthetase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

2517579694

Clinvar

2440735

Epidemiology in the Arab World

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Contributors

  • Sayeeda Hana: 26.03.2025

Edit History

  • Sayeeda Hana: 26.03.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.