NM_004992.3:c.1093_1095delGAG

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HGVS Expressions

  • NG_007107.2:g.111393_111395del
  • NM_004992.3:c.1093_1095delGAG
  • NP_004983.1:p.Glu365del
  • NC_000023.11:g.154030735_154030737del

Associated Genes

Methyl-CpG Binding Protein 2
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Clinvar Clinical Significance

Uncertain Significance

Variant Type

Deletion

dbSNP

786205032

Clinvar

189746

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.6LebanonNARett SyndromeCorbani S et al. 2012 Patient with typical Rett syndrome
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Contributors

  • Asha Deepthi: 01.05.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 26.09.2020
  • Asha Deepthi: 01.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.