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NM_152419.2:c.1348del
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NM_152419.2:c.1348del
HGVS Expressions
NG_009552.1:g.56953del
NM_152419.2:c.1348del
NP_689632.2:p.Asp450IlefsTer32
NC_000008.11:g.43192401del
Associated Genes
Heparan-Alpha-Glucosaminide N-Acetyltransferase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
771455190
Clinvar
1074147
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
252930.2
United Arab Emirates
2
Pathogenic
Mucopolysaccharidosis, Type IIIc
Saleh et al. 2021
Affected sister
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Contributors
Pratibha Nair: 27.09.2021
Edit History
Sami Bizzari: 03.06.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 27.09.2021
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