NM_018676.4:c.1561C>T

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HGVS Expressions

  • NG_047168.1:g.33086C>T
  • NM_018676.4:c.1561C>T
  • NP_061146.1:p.Gln521Ter
  • NC_000013.11:g.52378409G>A

Associated Genes

Thrombospondin Type 1 Domain-Containing Protein 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236750.2United Arab Emirates2NALikely PathogenicHydrops Fetalis, NonimmuneAl Rawi et al. 2021
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Contributors

  • Asha Deepthi: 10.05.2022

Edit History

  • Pratibha Nair: 05.12.2022
  • Asha Deepthi: 10.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.