NM_004992.3:c.1157_1200del

  1. Home
  2. NM_004992.3:c.1157_1200del

HGVS Expressions

  • NG_007107.2:g.111457_111500del
  • NM_004992.3:c.1157_1200del
  • NP_004983.1:p.Leu386GlnfsTer4
  • NC_000023.11:g.154030630_154030673del

Associated Genes

Methyl-CpG Binding Protein 2
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

63749748

Clinvar

143372

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.13Lebanon1Likely PathogenicRett SyndromeJalkh et al. 2019
Download Table

Contributors

  • Pratibha Nair: 27.10.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 27.10.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.