NR_023343.1:n.116A>T

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HGVS Expressions

  • NG_029832.1:g.5116A>T
  • NR_023343.1:n.116A>T
  • NC_000002.12:g.121530995A>T

Associated Genes

RNA, U4ATAC Small Nuclear
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

982261295

Clinvar

812960

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: 09.11.2022
  • Sayeeda Hana: 16.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.