PMP22, 1.4-MB DUP

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HGVS Expressions

  • PMP22, 1.4-MB DUP

Associated Genes

Peripheral Myelin Protein 22
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

8427

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
118220.GLebanon4PathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 1AMegarbane et al. 2022 4 patients from 4 families. Clinical fea...
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Contributors

  • Sami Bizzari: 21.03.2023

Edit History

  • Sami Bizzari: 21.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.