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NM_000520.5:c.1510delC
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NM_000520.5:c.1510delC
HGVS Expressions
NG_009017.2:g.35718del
NM_000520.5:c.1510delC
NP_000511.2:p.Arg504AlafsTer5
NC_000015.10:g.72345463del
Associated Genes
Hexosaminidase A
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Clinvar Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
797044433
Clinvar
3894
Epidemiology in the Arab World
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Iraq
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
272800.G.6
Iraq
4
Karpati et al. 2004
4 Iraqi Jews
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Contributors
Pratibha Nair: 16.07.2018
Edit History
Pratibha Nair: 12.10.2022
Sayeeda Hana: 17.09.2020
Pratibha Nair: 25.12.2018
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