NM_022370.4:c.2770_2779+21del

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HGVS Expressions

  • NG_016214.1:g.16043_16073del
  • NM_022370.4:c.2770_2779+21del
  • NP_071765.2:p.His924ProfsTer77
  • NC_000011.10:g.124876451_124876481del

Associated Genes

Roundabout Guidance Receptor 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

1704392

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607313.1United Arab Emirates2Likely PathogenicGaze Palsy, Familial Horizontal, with Progressive ScoliosisSaleh et al. 2021 Similarly affected cousin
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Contributors

  • Pratibha Nair: 18.01.2022

Edit History

  • Pratibha Nair: 04.01.2023
  • Sami Bizzari: 08.12.2022
  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 18.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.