NM_020427.3:c.178+1G>A

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  2. NM_020427.3:c.178+1G>A

HGVS Expressions

  • NG_011494.1:g.5610G>A
  • NM_020427.3:c.178+1G>A

Associated Genes

Secreted LY6/PLAUR Domain-Containing Protein 1
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Genomic Location

chr8:142741802

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587776602

Clinvar

4600

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248300.G.3Algeria6PathogenicMal de MeledaFischer et al. 1998; Bouadjar et al. 2000; Fischer et al. 2001 3 patients from 3 unrelated Algerian fam...
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Contributors

  • Sayeeda Hana: 06.10.2020

Edit History

  • Sayeeda Hana: 06.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.