NM_004992.3:c.964C>G

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HGVS Expressions

  • NG_007107.2:g.111264C>G
  • NM_004992.3:c.964C>G
  • NP_004983.1:p.Pro322Ala
  • NC_000023.11:g.154030864G>C

Associated Genes

Methyl-CpG Binding Protein 2
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61751449

Clinvar

143753

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.5LebanonNARett 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
  • Asha Deepthi: 01.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.