NM_201253.3:c.2505_2508del

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HGVS Expressions

  • NG_008483.2:g.231369_231372del
  • NM_201253.3:c.2505_2508del
  • NP_957705.1:p.Pro836ThrfsTer19
  • NC_000001.11:g.197427830_197427833del

Associated Genes

Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Deletion

dbSNP

778419716

Clinvar

1446299

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.4.1United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 12Khan and El-Ghrably. 2019 Proband. This patient has two siblings w...
600105.4.2United Arab Emirates1Uncertain SignificanceKhan and El-Ghrably. 2019 Brother of 600105.1.1. This patient has ...
600105.4.3United Arab Emirates1Uncertain SignificanceKhan and El-Ghrably. 2019; Alsalamah et al. 2020 Sister of 600105.1.1. This patient has h...
600105.4.4United Arab Emirates1Khan and El-Ghrably. 2019 Mother of 600105.1.1
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Contributors

  • Asha Deepthi: 19.04.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Asha Deepthi: 20.04.2021
  • Asha Deepthi: 19.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.