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NM_005807.6:c.4078A>T
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NM_005807.6:c.4078A>T
HGVS Expressions
NG_008248.2:g.21570A>T
NM_005807.6:c.4078A>T
NP_005798.3:p.Arg1360Ter
Associated Genes
Proteoglycan 4
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Genomic Location
chr1:186312855
Variant Type
Substitution
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
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 1a in the publication
208250.1.2
Saudi Arabia
1
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 1b in the publication, brother o...
208250.1.3
Saudi Arabia
1
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 1c in the publication, brother o...
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Contributors
Edit History
Asha Deepthi: 21.06.2020
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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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