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NM_000520.5:c.498delC
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NM_000520.5:c.498delC
HGVS Expressions
NG_009017.2:g.28040del
NM_000520.5:c.498delC
NP_000511.2:p.Pro168LeufsTer31
NC_000015.10:g.72353140del
Associated Genes
Hexosaminidase A
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CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
272800.16
Syria
1
Pathogenic
Peleg et al. 1995
Compound heterozygous
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Contributors
Pratibha Nair: 16.07.2018
Edit History
Pratibha Nair: 12.10.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 25.12.2018
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