NM_173660.5:c.1124_1127dup

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HGVS Expressions

  • NG_013072.2:g.34805_34808dup
  • NM_173660.5:c.1124_1127dup
  • NP_775931.3:p.Ala378SerfsTer30
  • NC_000004.12:g.3493110_3493113dup

Associated Genes

Downstream of Tyrosine Kinase 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

606231128

Clinvar

1273

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: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 27.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.