NM_000214.2:c.1481dup

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HGVS Expressions

  • NG_007496.1:g.30410dup
  • NM_000214.2:c.1481dup
  • NP_000205.1:p.Asn494LysfsTer12
  • NC_000020.11:g.10648638dup

Associated Genes

Jagged 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.11Saudi Arabia1Likely PathogenicRetinitis PigmentosaPatel et al. 2016
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Contributors

  • Sayeeda Hana: 21.08.2024

Edit History

  • Sayeeda Hana: 21.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.