NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA

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HGVS Expressions

  • NG_007107.2:g.111464_111484delinsCTGAGCCCCAGGACTTGAGCA
  • NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA
  • NP_004983.1:p.Pro389Ter

Associated Genes

Methyl-CpG Binding Protein 2
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Genomic Location

ChrX:154030644-154030664

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

786205019

Clinvar

189665

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.11LebanonNAPathogenicRett SyndromeCorbani S et al. 2012 Patient with atypical Rett syndrome
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Contributors

  • Asha Deepthi: 01.05.2019

Edit History

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