NM_018676.3:c.1322_1329del

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HGVS Expressions

  • NM_018676.3:c.1322_1329del
  • NP_061146.1:p.Arg441GlnfsTer66
  • NC_000013.11:g.52378644_52378651del

Associated Genes

Thrombospondin Type 1 Domain-Containing Protein 1
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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
236750.1.1United Arab Emirates2PathogenicHydrops Fetalis, NonimmuneAbdelrahman et al. 2018 Proband (patient 'IV.4' in the publicati...
236750.1.2United Arab Emirates2PathogenicHydrops Fetalis, NonimmuneAbdelrahman et al. 2018 Brother of 236750.1.1 (patient 'IV.6' in...
236750.1.3United Arab Emirates2PathogenicHydrops Fetalis, NonimmuneAbdelrahman et al. 2018 Cousin of 236750.1.1 (patient 'IV.9' in ...
236750.1.4United Arab Emirates2PathogenicHydrops Fetalis, NonimmuneAbdelrahman et al. 2018 Cousin of 236750.1.1 (patient 'IV.10' in...
605988.GUnited Arab EmiratesAlmarzooqi et al. 2021 Study on symptomatic and asymptomatic Em...
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Contributors

  • Sami Bizzari: 08.02.2023
  • Asha Deepthi: 26.04.2021

Edit History

  • Sami Bizzari: 08.02.2023
  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 27.04.2021
  • Asha Deepthi: 26.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.