NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del

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  2. NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del

HGVS Expressions

  • NM_000554.4:c.(100+1_101-1)_(c.900+1_?)del

Associated Genes

Cone-Rod Homeobox-Containing Gene
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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
120970.1.1United Arab Emirates1Likely PathogenicCone-Rod Dystrophy 2Khan et al. 2019; Alsalamah et al. 2020
120970.1.2United Arab Emirates1Likely PathogenicCone-Rod Dystrophy 2Khan et al. 2019 Daughter of 120970.1.1
120970.1.3United Arab Emirates1Likely PathogenicCone-Rod Dystrophy 2Khan et al. 2019 Daughter of 120970.1.1
120970.1.4United Arab Emirates1Likely PathogenicCone-Rod Dystrophy 2Khan et al. 2019 Sibling of 120970.1.1
120970.1.5United Arab Emirates1Likely PathogenicCone-Rod Dystrophy 2Khan et al. 2019 Sibling of 120970.1.1
120970.1.6United Arab Emirates1Likely PathogenicCone-Rod Dystrophy 2Khan et al. 2019 Sibling of 120970.1.1
120970.1.7United Arab Emirates1Likely PathogenicCone-Rod Dystrophy 2Khan et al. 2019 Daughter of 120970.1.4
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Contributors

  • Pratibha Nair: 20.04.2021

Edit History

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