NM_001110792.1:c.932C>T

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HGVS Expressions

  • NG_007107.2:g.111196C>T
  • NM_001110792.1:c.932C>T
  • NP_001104262.1:p.Thr311Ile
  • NC_000023.11:g.154030932G>A

Associated Genes

Methyl-CpG Binding Protein 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300496.1United Arab Emirates1Likely PathogenicAutism, Susceptibility to, X-Linked 3Saleh et al. 2021 Similarly affected brother
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Contributors

  • Pratibha Nair: 24.01.2022

Edit History

  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 24.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.