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NM_000520.5:c.509G>A
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NM_000520.5:c.509G>A
HGVS Expressions
NG_009017.2:g.28051G>A
NM_000520.5:c.509G>A
NP_000511.2:p.Arg170Gln
NC_000015.10:g.72353129C>T
Associated Genes
Hexosaminidase A
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
121907957
Clinvar
3900
Epidemiology in the Arab World
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All Countries
Iraq
Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
272800.2
Iraq
1
Karpati et al. 2004
Iraqi Jew
272800.9
Morocco
1
Drucker et al. 1992
Moroccan Jew
272800.G.8
Morocco
19
Kaufman et al. 1997
19 Moroccan Jewish carriers
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Contributors
Pratibha Nair: 16.07.2018
Edit History
Pratibha Nair: 12.10.2022
Pratibha Nair: 25.12.2018
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Algeria
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Qatar
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United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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