NM_021831.6:c.1255dup

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HGVS Expressions

  • NG_052914.1:g.9606dup
  • NM_021831.6:c.1255dup
  • NP_068603.4:p.Thr419AsnfsTer32
  • NC_000002.12:g.27056028dup

Associated Genes

ATP/GTP-Binding Protein-Like 5
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1668413357

Clinvar

978985

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615900.1United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 75Khan. 2020
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Contributors

  • Asha Deepthi: 10.05.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 05.01.2023
  • Pratibha Nair: 09.11.2022
  • Pratibha Nair: 31.10.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 10.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.