NM_016247.4:c.533+4_533+7del

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HGVS Expressions

  • NG_028284.1:g.34101_34104del
  • NM_016247.4:c.533+4_533+7del
  • NP_057331.2:p.?
  • NC_000003.12:g.101291475_101291478del

Associated Genes

Interphotoreceptor Matrix Proteoglycan 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1707008452

Clinvar

813053

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613581.4.1United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 56Khan et al. 2019
613581.4.2United Arab Emirates1Khan et al. 2019 Father of 613581.4.1
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Contributors

  • Pratibha Nair: 20.04.2021

Edit History

  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 31.10.2022
  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 20.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.