NM_004247.4:c.2622dupT

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HGVS Expressions

  • NG_032674.1:g.52124dup
  • NM_004247.4:c.2622dupT
  • NP_004238.3:p.Ile875TyrfsTer10
  • NC_000017.11:g.44852505dup

Associated Genes

Elongation Factor Tu GTP-Binding Domain-Containing 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610536.1.1Lebanon1PathogenicMandibulofacial Dysostosis, Guion-Almeida TypeMégarbané et al., 2005; Voigt et al. 2013 Germline mosaicism in one of the parents...
610536.1.2Lebanon1PathogenicMandibulofacial Dysostosis, Guion-Almeida TypeMégarbané et al., 2005; Voigt et al. 2013 Sister of 610536.1.1. OMIM classifies th...
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Contributors

  • Pratibha Nair: 05.01.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 05.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.