NC_000002.12:g.47584496_47665383del

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HGVS Expressions

  • NC_000002.12:g.47584496_47665383del

Associated Genes

Epithelial Cellular Adhesion Molecule; Muts Homolog 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.2United Arab Emirates2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, Congenital; Mismatch Repair Cancer Syndrome 2Alabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 23.06.2022

Edit History

  • Pratibha Nair: 23.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.