NM_018192.4:c.1543_1546del

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HGVS Expressions

  • NG_031929.1:g.153524_153527del
  • NM_018192.4:c.1543_1546del
  • NP_060662.2:p.Leu515AsnfsTer10
  • NC_000003.12:g.189973913_189973916del

Associated Genes

Prolyl 3-Hydroxylase 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614292.1United Arab Emirates2Likely PathogenicMyopia, High, With Cataract And Vitreoretinal DegenerationKhan. 2019 Patient has a similarly affected younger...
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Contributors

  • Asha Deepthi: 21.04.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Asha Deepthi: 21.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.