NM_022455.4:c.3549dup

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HGVS Expressions

  • NG_009821.1:g.83870dup
  • NM_022455.4:c.3549dup
  • NP_071900.2:p.Glu1184Ter
  • NC_000005.10:g.177211948dup

Associated Genes

Nuclear Receptor-Binding Set Domain Protein1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

797045813

Clinvar

211726

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
117550.2United Arab Emirates1PathogenicSotos Syndrome 1Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 09.09.2021

Edit History

  • Pratibha Nair: 09.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.