NM_030632.3:c.4120_4123dup

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HGVS Expressions

  • NG_055244.1:g.170392_170395dup
  • NM_030632.3:c.4120_4123dup
  • NP_085135.1:p.Ala1375AspfsTer7
  • NC_000018.10:g.33743968_33743971dup

Associated Genes

ASXL Transcriptional Regulator 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

2145426865

Clinvar

1223193

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615485.1Saudi Arabia1PathogenicBainbridge-Ropers syndromeMonies et al. 2017
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Contributors

  • Asha Deepthi: 19.09.2024

Edit History

  • Asha Deepthi: 19.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.