NM_001005242.3:c.2377del

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HGVS Expressions

  • NG_009000.1:g.109135del
  • NM_001005242.3:c.2377del
  • NP_001005242.2:p.Ser793fs

Associated Genes

Plakophilin 2
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Genomic Location

chr12:32792713

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

727504432

Clinvar

177995

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609040.1Lebanon1PathogenicArrhythmogenic Right ventricular Dysplasia, Familial, 9Refaat et al. 2019
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Contributors

  • Pratibha Nair: 11.10.2020

Edit History

  • Pratibha Nair: 11.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.