NM_003593.2:c.562del

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HGVS Expressions

  • NG_007260.1:g.6001del
  • NM_003593.2:c.562del
  • NP_003584.2:p.Ser188AlafsTer114
  • NC_000017.11:g.28524941del

Associated Genes

Forkhead Box N1
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1597552140

Clinvar

827573

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601705.1.1Lebanon2PathogenicT-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy Chou et al, 2014 Proband
601705.1.2Lebanon1PathogenicChou et al, 2014 Unaffected father of 601705.1.1
601705.1.3Lebanon1PathogenicChou et al, 2014 Unaffected mother of 601705.1.1
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Contributors

  • Sami Bizzari: 30.05.2021
  • Sayeeda Hana: 16.07.2019

Edit History

  • Sami Bizzari: 30.05.2021
  • Sayeeda Hana: 16.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.