NM_001029883.3:c.2756_2758del

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HGVS Expressions

  • NG_021427.1:g.7756_7758del
  • NM_001029883.3:c.2756_2758del
  • NP_001025054.1:p.Lys919_Pro920delinsThr
  • NC_000002.12:g.29071504_29071506del

Associated Genes

Photoreceptor Cilium Actin Regulator
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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
613428.1Lebanon1PathogenicRetinitis Pigmentosa 54Gerth-Kahlert et al. 2017 Lebanese/Armenian origin
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Contributors

  • Pratibha Nair: 18.01.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 18.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.