NM_001029883.3:c.2967del

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HGVS Expressions

  • NG_021427.1:g.7967del
  • NM_001029883.3:c.2967del
  • NP_001025054.1:p.Val990TrpfsTer45
  • NC_000002.12:g.29071295del

Associated Genes

Photoreceptor Cilium Actin Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1667476173

Clinvar

979001

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613428.2United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 54Khan. 2020
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Contributors

  • Asha Deepthi: 31.05.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 05.01.2023
  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 31.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.