NM_015072.5:c.(?_1282)_(2986_?)del

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HGVS Expressions

  • NG_016974.1:g.(?_88888)_(127323_?)del
  • NM_015072.5:c.(?_1282)_(2986_?)del
  • NC_000014.9:g.(?_75745095)_(75783530_?)del

Associated Genes

Tubulin Tyrosine Ligase-like Family, Member 5
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615860.2United Arab EmiratesNANAPathogenicCone-Rod Dystrophy 19Méjécase et al. 2020 Patient(s) from 'family 34' in the publi...
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Contributors

  • Asha Deepthi: 22.07.2022

Edit History

  • Asha Deepthi: 22.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.