NM_016941.3:c.614_615ins13

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HGVS Expressions

  • NG_008256.1:g.9103_9104ins13
  • NM_016941.3:c.614_615ins13

Associated Genes

Delta-Like 3
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Genomic Location

39503019ins13

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277300.G.1LebanonLikely PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al, 2003
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Contributors

  • Sami Bizzari: 12.02.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sami Bizzari: 12.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.