NM_002538.4:c.514dup

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HGVS Expressions

  • NG_028291.1:g.22313dup
  • NM_002538.4:c.514dup
  • NP_002529.1:p.Tyr172LeufsTer104
  • NC_000005.10:g.69509604dup

Associated Genes

Occludin
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

730882227

Clinvar

183322

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251290.1.1Saudi Arabia2PathogenicPseudo-TORCH Syndrome1 Shaheen et al. 2019
251290.1.2Saudi Arabia2PathogenicPseudo-TORCH Syndrome1 Shaheen et al. 2019 Relative of 251290.1.1
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Contributors

  • Sayeeda Hana: 28.01.2022

Edit History

  • Sayeeda Hana: 28.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.