NM_133468.5:c.712T>G

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HGVS Expressions

  • NG_031933.1:g.151986T>G
  • NM_133468.5:c.712T>G
  • NP_597725.1:p.Cys238Gly
  • NC_000007.14:g.34051896T>G

Associated Genes

Bone Morphogenetic Protein-Binding Endothelial Regulator Protein
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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
608022.1Saudi Arabia2Likely PathogenicDiaphanospondylodysostosisMonies et al. 2017
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Contributors

  • Asha Deepthi: 26.12.2024

Edit History

  • Asha Deepthi: 26.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.