NM_001005242.3:c.184C>A

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  2. NM_001005242.3:c.184C>A

HGVS Expressions

  • NG_009000.1:g.5299C>A
  • NM_001005242.3:c.184C>A
  • NP_001005242.2:p.Gln62Lys

Associated Genes

Plakophilin 2
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Genomic Location

chr12:32896548

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

199601548

Clinvar

161332

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609040.1Lebanon1Likely BenignRefaat et al. 2019
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Contributors

  • Pratibha Nair: 11.10.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 11.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.