NM_173660.5:c.1457dup

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  2. NM_173660.5:c.1457dup

HGVS Expressions

  • NG_013072.2:g.35138dup
  • NM_173660.5:c.1457dup
  • NP_775931.3:p.Ala487GlyfsTer32
  • NC_000004.12:g.3493443dup

Associated Genes

Downstream of Tyrosine Kinase 7
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
254300.1United Arab Emirates1Likely PathogenicMyasthenic Syndrome, Congenital, 10Al-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 27.07.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 27.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.