NM_016373.4:c.107+3A>G

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HGVS Expressions

  • NG_011698.1:g.5235A>G
  • NM_016373.4:c.107+3A>G
  • NP_057457.1:p.?
  • NC_000016.10:g.78099888A>G

Associated Genes

WW Domain-Containing Oxidoreductase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1220855233

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616211.2United Arab Emirates2Likely PathogenicDevelopmental and Epileptic Encephalopathy 28Saleh et al. 2021
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Contributors

  • Pratibha Nair: 18.01.2022

Edit History

  • Sayeeda Hana: 06.12.2022
  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 18.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.