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NM_012259.3:c.486_564del
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NM_012259.3:c.486_564del
HGVS Expressions
NM_012259.3:c.486_564del
Associated Genes
HES-Related Family bHLH Transcription Factor with YRPW Motif 2
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Genomic Location
chr6:125759274-125759352
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
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
614429.3
Lebanon
1
Pathogenic
Ventricular Septal Defect 1
Fardoun et al. 2019
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Contributors
Pratibha Nair: 14.10.2020
Edit History
Pratibha Nair: 14.10.2020
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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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