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NM_005807.6:c.3125_3128del
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NM_005807.6:c.3125_3128del
HGVS Expressions
NG_008248.2:g.17559_17562
NM_005807.6:c.3125_3128del
NP_005798.3:p.Val1043Glufs*12
Associated Genes
Proteoglycan 4
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Genomic Location
chr1:186308844-186308847
Variant Type
Deletion
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
208250.3
Saudi Arabia
2
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Alazami et al. 2006
Patient 3 in the publication
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Contributors
Edit History
Asha Deepthi: 21.06.2020
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Algeria
Bahrain
Comoros
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