NM_198843.2:c.401delT

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HGVS Expressions

  • NG_016967.1:g.7097del
  • NM_198843.2:c.401delT
  • NP_942140.2:p.Leu134ArgfsTer93
  • NC_000002.12:g.85666645del

Associated Genes

Surfactant, Pulmonary-Associated Protein B
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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
265120.1.1Lebanon2PathogenicSurfactant Metabolism Dysfunction, Pulmonary, 1Ferzli et al., 2006 Had a similarly affected sister by histo...
265120.1.2Lebanon1PathogenicFerzli et al., 2006 Mother of 265120.1.1
265120.1.3Lebanon1PathogenicFerzli et al., 2006 Father of 265120.1.1
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Contributors

  • Pratibha Nair: 08.01.2019

Edit History

  • Pratibha Nair: 08.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 08.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.