NM_032801.5:c.2T>G

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  2. NM_032801.5:c.2T>G

HGVS Expressions

  • NG_028348.1:g.5161T>G
  • NM_032801.5:c.2T>G
  • NP_001192258.1:p.Met1Thr
  • NC_000011.10:g.134069085T>G

Associated Genes

Junctional Adhesion Molecule 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514678

Clinvar

41883

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613730.2.1Morocco2PathogenicHemorrhagic Destruction of the Brain, Subependymal Calcification, and CataractsAkawi et al. 2013 Family history includes an older sibling...
613730.2.2Morocco1Akawi et al. 2013 Father of 613730.2.1
613730.2.3Morocco1Akawi et al. 2013 Mother of 613730.2.1
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Contributors

  • Sayeeda Hana: 06.07.2021

Edit History

  • Sayeeda Hana: 06.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.