NM_153218.4:c.827del

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  2. NM_153218.4:c.827del

HGVS Expressions

  • NG_053160.1:g.10023del
  • NM_153218.4:c.827del
  • NP_694950.2:p.Thr276fs
  • NC_000013.11:g.43883856del

Associated Genes

Laccase (Multicopper Reductase) Domain-Containing Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1594890601

Clinvar

814022

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618795.1.1Lebanon2PathogenicJuvenile ArthritisKallinich et al. 2016 Proband
618795.1.2Lebanon2PathogenicJuvenile ArthritisKallinich et al. 2016 Sister of 618795.1.1
618795.1.3Lebanon1Kallinich et al. 2016 Father of 618795.1.1
618795.1.4Lebanon1Kallinich et al. 2016 Mother of 618795.1.1
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Contributors

  • Sayeeda Hana: 04.01.2021

Edit History

  • Sami Bizzari: 06.01.2021
  • Sayeeda Hana: 04.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.