NM_001384732.1:c.8150_8151del

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HGVS Expressions

  • NG_032772.3:g.100413_100414del
  • NM_001384732.1:c.8150_8151del
  • NP_001371661.1:p.Gly2717AlafsTer40
  • NC_000005.10:g.37153962_37153963del

Associated Genes

Chromosome 5 Open Reading Frame 42
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

730882217

Clinvar

183307

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614615.2Saudi Arabia2Likely PathogenicJoubert Syndrome 17Alazami et al. 2015; Alazami et al. 2012
614615.3Saudi Arabia2Likely PathogenicJoubert Syndrome 17Alazami et al. 2015; Alazami et al. 2012 Had a similarly affected sibling
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Contributors

  • Pratibha Nair: 19.10.2023

Edit History

  • Pratibha Nair: 19.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.