NM_000428.3:c.4855C>T

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HGVS Expressions

  • NG_021486.1:g.114080C>T
  • NM_000428.3:c.4855C>T
  • NP_000419.1:p.Gln1619Ter
  • NC_000014.9:g.74503252G>A

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387907174

Clinvar

31629

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251750.2.1Saudi Arabia2NAPathogenicMicrospherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary GlaucomaKhan 2011 Patient from 'family 2' in the publicati...
251750.2.2Saudi Arabia2NAPathogenicMicrospherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary GlaucomaKhan 2011 Brother of 251750.2.1
251750.2.3Saudi Arabia1NAKhan 2011 Father of 251750.2.1
251750.2.4Saudi Arabia1NAKhan 2011 Mother of 251750.2.1
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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.