NM_000428.3:c.1012del

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HGVS Expressions

  • NG_021486.1:g.61820del
  • NM_000428.3:c.1012del
  • NP_000419.1:p.Ser338ProfsTer5
  • NC_000014.9:g.74555512del

Associated Genes

Latent Transforming Growth Factor-Beta-Binding Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1566636728

Clinvar

31628

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251750.1.1Saudi Arabia2NAPathogenicMicrospherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary GlaucomaKhan 2011 Patient from 'family 1' in the publicati...
251750.1.2Saudi Arabia1NAKhan 2011 Father of 251750.1.1
251750.1.3Saudi Arabia1NAKhan 2011 Mother of 251750.1.1
251750.1.4Saudi Arabia2NAPathogenicMicrospherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary GlaucomaKhan 2011 Cousin of 251750.1.1
251750.1.5Saudi Arabia1NAKhan 2011 Father of 251750.1.4
251750.1.6Saudi Arabia1NAKhan 2011 Mother of 251750.1.4
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Contributors

  • Asha Deepthi: 25.10.2022

Edit History

  • Asha Deepthi: 25.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.