NM_015178.3:c.394C>T

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HGVS Expressions

  • NG_047133.1:g.23800C>T
  • NM_015178.3:c.394C>T
  • NP_055993.2:p.Arg132Ter
  • NC_000008.11:g.23006057C>T

Associated Genes

RHO-Related BTB Domain-Containing Protein 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1585190351

Clinvar

800793

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618004.2.1Saudi Arabia2PathogenicDevelopmental and Epileptic Encephalopathy 64Maddirevula et al. 2020 Patient had a paternal uncle and 2 pater...
618004.2.2Saudi Arabia2PathogenicDevelopmental and Epileptic Encephalopathy 64Maddirevula et al. 2020 Sister of 618004.2.1
618004.2.3Saudi Arabia2PathogenicDevelopmental and Epileptic Encephalopathy 64Maddirevula et al. 2020 Sister of 618004.2.1
618004.2.4Saudi Arabia1Maddirevula et al. 2020 Father of 618004.2.1
618004.2.5Saudi Arabia1Maddirevula et al. 2020 Mother of 618004.2.1
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Contributors

  • Sayeeda Hana: 21.11.2022

Edit History

  • Sayeeda Hana: 23.12.2022
  • Sayeeda Hana: 21.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.