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NM_005807.6:c.3139_3140del
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NM_005807.6:c.3139_3140del
HGVS Expressions
NG_008248.2:g.17573_17574del
NM_005807.6:c.3139_3140del
NP_005798.3:p.Lys1047fs
Associated Genes
Proteoglycan 4
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Genomic Location
chr1:186308858-186308859
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1571575523
Clinvar
800914
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
208250.1.1
Saudi Arabia
1
Pathogenic
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 1a in the publication
208250.1.2
Saudi Arabia
1
Pathogenic
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 1b in the publication, brother o...
208250.1.3
Saudi Arabia
1
Pathogenic
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 1c in the publication, brother o...
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Contributors
Edit History
Sayeeda Hana: 05.10.2020
Asha Deepthi: 21.06.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
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Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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