NM_001110792.2:c.433C>T

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HGVS Expressions

  • NG_007107.3:g.110673C>T
  • NM_001110792.2:c.433C>T
  • NP_001104262.1:p.Arg145Cys
  • NC_000023.11:g.154031431G>A

Associated Genes

Methyl-CpG Binding Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28934904

Clinvar

11809

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.19Saudi Arabia1Likely PathogenicRett SyndromeMonies et al. 2019 de novo mutation
312750.21Saudi Arabia1Likely PathogenicRett SyndromeMonies et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 15.11.2023

Edit History

  • Pratibha Nair: 15.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.