NM_016373.4:c.(?_173)_(409_?)del

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HGVS Expressions

  • NG_011698.1:g.(?_15125)_(20501_?)del
  • NM_016373.4:c.(?_173)_(409_?)del
  • NC_000016.10:g.(?_78109778)_(78115154_?)

Associated Genes

WW Domain-Containing Oxidoreductase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616211.3.1United Arab Emirates2Likely PathogenicDevelopmental and Epileptic Encephalopathy 28Shaukat et al. 2018 Deletion variant harbored involves exons...
616211.3.2United Arab Emirates1Shaukat et al. 2018 Father of 616211.3.1
616211.3.3United Arab Emirates1Shaukat et al. 2018 Mother of 616211.3.1
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Contributors

  • Sayeeda Hana: 22.03.2022

Edit History

  • Sayeeda Hana: 22.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.