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NM_004273.5:c.1_1440del
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NM_004273.5:c.1_1440del
HGVS Expressions
NG_012635.1:g.46482_49110del
NM_004273.5:c.1_1440del
NC_000010.11:g.72005843_72008471del
Associated Genes
Carbohydrate Sulfotransferase 3
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
143095.5
Morocco
2
Likely Pathogenic
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
Ranza et al. 2017
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Contributors
Pratibha Nair: 05.07.2022
Edit History
Pratibha Nair: 05.07.2022
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