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NM_005807.6:c.3277_3278del
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NM_005807.6:c.3277_3278del
HGVS Expressions
NG_008248.2:g.17711_17712del
NM_005807.6:c.3277_3278del
NP_005798.3:p.Lys1093fs
Associated Genes
Proteoglycan 4
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Genomic Location
chr1:186308996-186308997
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1258207620
Clinvar
684666
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
208250.4.1
Saudi Arabia
2
Pathogenic
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 4a in the publication
208250.4.2
Saudi Arabia
2
Pathogenic
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 4b in the publication, sister of...
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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
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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