NM_014336.5:c.178dup

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HGVS Expressions

  • NG_008474.1:g.6183dup
  • NM_014336.5:c.178dup
  • NP_055151.3:p.His60ProfsTer98
  • NC_000017.11:g.6434017dup

Associated Genes

Arylhydrocarbon-Interacting Receptor Protein-Like 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1598974143

Clinvar

191292

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604393.G.1Saudi Arabia4+PathogenicLeber Congenital Amaurosis 4Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 29.07.2024

Edit History

  • Sayeeda Hana: 29.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.