NR_023343.1:n.55G>A

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HGVS Expressions

  • NG_029832.1:g.5055G>A
  • NR_023343.1:n.55G>A
  • NC_000002.12:g.121530934G>A

Associated Genes

RNA, U4ATAC Small Nuclear
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30179

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226960.1.1Saudi Arabia1PathogenicLowry-Wood SyndromeShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 16.12.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 08.02.2022
  • Sayeeda Hana: 16.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.