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NM_004273.5:c.1086delG
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NM_004273.5:c.1086delG
HGVS Expressions
NG_012635.1:g.48756delG
NM_004273.5:c.1086delG
NP_004264.2:p.Arg363fs
Associated Genes
Carbohydrate Sulfotransferase 3
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Genomic Location
chr10:72008117
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1589509884
Clinvar
6045
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
143095.3.23
Lebanon
1
Pathogenic
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
Unger et al. 2010
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Contributors
Sayeeda Hana: 24.09.2019
Edit History
Sami Bizzari: 30.05.2021
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 30.09.2019
Sayeeda Hana: 24.09.2019
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