NM_022874.2:c.549del

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HGVS Expressions

  • NM_022874.2:c.549del
  • NP_075012.1:p.Lys184SerfsTer27
  • NC_000005.10:g.70942792del

Associated Genes

Survival of Motor Neuron 1, Telomeric
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Clinvar Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1699219

Contributors

  • Sami Bizzari: 20.03.2023

Edit History

  • Sami Bizzari: 20.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.