NM_001205254.1:c.1037+1G>A

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HGVS Expressions

  • NG_028291.1:g.47549G>A
  • NM_001205254.1:c.1037+1G>A
  • NP_001192183.1:p.?
  • NC_000005.10:g.69534840G>A

Associated Genes

Occludin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

748442113

Clinvar

436101

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251290.2United Arab Emirates2Likely PathogenicPseudo-TORCH Syndrome1 Saleh et al. 2021
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Contributors

  • Pratibha Nair: 19.01.2022

Edit History

  • Sayeeda Hana: 07.12.2022
  • Pratibha Nair: 19.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.