NM_001205254.1:c.981del

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HGVS Expressions

  • NG_028291.1:g.47492del
  • NM_001205254.1:c.981del
  • NP_001192183.1:p.Asn328MetfsTer4
  • NC_000005.10:g.69534783del

Associated Genes

Occludin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251290.1United Arab Emirates2PathogenicPseudo-TORCH Syndrome1 Saleh et al. 2021
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Contributors

  • Pratibha Nair: 11.10.2021

Edit History

  • Pratibha Nair: 11.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.