NM_016373.3:c.410-17474_516+10296del

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HGVS Expressions

  • NG_011698.1:g.52053_79932
  • NM_016373.3:c.410-17474_516+10296del
  • NP_057457.1:p.?
  • NC_000016.10:g.78146709_78174585del

Associated Genes

WW Domain-Containing Oxidoreductase
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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
616211.1.1United Arab Emirates2PathogenicDevelopmental and Epileptic Encephalopathy 28Ben-Salem et al. 2015
616211.1.2United Arab Emirates1Ben-Salem et al. 2015 Mother of 616211.1.1
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Contributors

  • Sayeeda Hana: 13.07.2021

Edit History

  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 13.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.