NM_016373.4:c.606-1G>A

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  2. NM_016373.4:c.606-1G>A

HGVS Expressions

  • NG_011698.1:g.330216G>A
  • NM_016373.4:c.606-1G>A
  • NP_057457.1:p.?
  • NC_000016.10:g.78424869G>A

Associated Genes

WW Domain-Containing Oxidoreductase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882215

Clinvar

183303

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616211.4.1United Arab Emirates2Likely PathogenicDevelopmental and Epileptic Encephalopathy 28Shaukat et al. 2018
616211.4.2United Arab Emirates1Shaukat et al. 2018 Father of 616211.4.1
616211.4.3United Arab Emirates1Shaukat et al. 2018 Mother of 616211.4.1
616211.5United Arab Emirates2Likely PathogenicDevelopmental and Epileptic Encephalopathy 28Alabdullatif et al. 2017
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Contributors

  • Sayeeda Hana: 22.03.2022

Edit History

  • Asha Deepthi: 05.12.2022
  • Pratibha Nair: 28.06.2022
  • Sayeeda Hana: 23.03.2022
  • Sayeeda Hana: 22.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.