NM_002615.7:c.653del

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HGVS Expressions

  • NG_028180.1:g.18103del
  • NM_002615.7:c.653del
  • NP_002606.3:p.Val218GlufsTer22
  • NC_000017.11:g.1775067del

Associated Genes

Serpin Peptidase Inhibitor, Clade F, Member 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

398122520

Clinvar

41894

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613982.2.1Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type VIShaheen et al. 2012; Maddirevula et al. 2018
613982.2.2Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type VIShaheen et al. 2012; Maddirevula et al. 2018 Relative of 613982.2.1
613982.3Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type VIMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 16.02.2022

Edit History

  • Asha Deepthi: 20.09.2022
  • Asha Deepthi: 16.09.2022
  • Asha Deepthi: 16.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.