NM_130466.4:c.1622+1G>A

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  2. NM_130466.4:c.1622+1G>A

HGVS Expressions

  • NG_033898.1:g.35114G>A
  • NM_130466.4:c.1622+1G>A
  • NC_000012.12:g.109507736G>A

Associated Genes

Ubiquitin-Protein Ligase E3B
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

934035216

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
244450.2Saudi Arabia2Likely PathogenicKaufman Oculocerebrofacial SyndromeMonies et al. 2019
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Contributors

  • Pratibha Nair: 20.11.2023

Edit History

  • Pratibha Nair: 20.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.