NM_002615.7:c.1118_1119del

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HGVS Expressions

  • NG_028180.1:g.20343_20344del
  • NM_002615.7:c.1118_1119del
  • NP_002606.3:p.Pro373GlnfsTer18
  • NC_000017.11:g.1777307_1777308del

Associated Genes

Serpin Peptidase Inhibitor, Clade F, Member 1
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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
613982.G.1Saudi Arabia4NAPathogenicOsteogenesis Imperfecta, Type VIShaheen et al. 2012 Two patients from family 'OI_F5' in the ...
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Contributors

  • Asha Deepthi: 16.09.2022

Edit History

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