NM_001170629.2:c.4984C>T

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  2. NM_001170629.2:c.4984C>T

HGVS Expressions

  • NG_021249.2:g.63233C>T
  • NM_001170629.2:c.4984C>T
  • NP_001164100.1:p.Arg1662Ter
  • NC_000014.9:g.21397890G>A

Associated Genes

Chromodomain Helicase DNA-Binding Protein 8
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1555313934

Clinvar

1029213

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615032.1Saudi Arabia2Likely PathogenicIntellectual Developmental Disorder with Autism and MacrocephalyMonies et al. 2017; Monies et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 16.11.2023

Edit History

  • Pratibha Nair: 16.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.