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NM_001005242.3:c.2377del
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NM_001005242.3:c.2377del
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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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
609040.1
Lebanon
1
Pathogenic
Arrhythmogenic Right ventricular Dysplasia, Familial, 9
Refaat et al. 2019
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Contributors
Pratibha Nair: 11.10.2020
Edit History
Pratibha Nair: 11.10.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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