NM_001080477.4:c.2083dup

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  2. NM_001080477.4:c.2083dup

HGVS Expressions

  • NG_042859.1:g.449783dup
  • NM_001080477.4:c.2083dup
  • NP_001073946.1:p.Thr695AsnfsTer5
  • NC_000004.12:g.182688213dup

Associated Genes

Teneurin Transmembrane Protein 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

587776950

Clinvar

41420

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615145.2.1Saudi Arabia2PathogenicMicrophthalmia, Isolated, with Coloboma 9Aldahmesh et al. 2012; Patel et al. 2018 'Patient 1' in the publication
615145.2.2Saudi Arabia2PathogenicMicrophthalmia, Isolated, with Coloboma 9Aldahmesh et al. 2012 Sister of 615145.2.1
615145.2.3Saudi Arabia1Aldahmesh et al. 2012 Father of 615145.2.1
615145.2.4Saudi Arabia1Aldahmesh et al. 2012 Mother of 615145.2.1
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Contributors

  • Asha Deepthi: 29.03.2023

Edit History

  • Pratibha Nair: 04.10.2023
  • Asha Deepthi: 29.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.