NM_004992.3:c.473C>T

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  2. NM_004992.3:c.473C>T

HGVS Expressions

  • NG_007107.2:g.110773C>T
  • NM_004992.3:c.473C>T
  • NP_004983.1:p.Thr158Met

Associated Genes

Methyl-CpG Binding Protein 2
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Genomic Location

ChrX:154031355

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

28934906

Clinvar

11811

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.9LebanonNALikely Pathogenic, PathogenicRett SyndromeCorbani S et al. 2012 Patient with typical Rett syndrome
312750.12Lebanon1PathogenicRett SyndromeNair et al. 2018
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Contributors

  • Asha Deepthi: 01.05.2019

Edit History

  • Pratibha Nair: 23.04.2020
  • Asha Deepthi: 01.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.