NM_004992.3:c.916C>T

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HGVS Expressions

  • NG_007107.2:g.111216C>T
  • NM_004992.3:c.916C>T
  • NP_004983.1:p.Arg306Cys

Associated Genes

Methyl-CpG Binding Protein 2
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Genomic Location

ChrX:154030912

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28935468

Clinvar

11824

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.4LebanonNAPathogenicRett SyndromeCorbani S et al. 2012 Patient with typical Rett syndrome
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Contributors

  • Asha Deepthi: 01.05.2019

Edit History

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