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NM_000520.5:c.910_912delTTC
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NM_000520.5:c.910_912delTTC
HGVS Expressions
NG_009017.2:g.32030_32032del
NM_000520.5:c.910_912delTTC
NP_000511.2:p.Phe305del
NC_000015.10:g.72349153_72349155del
Associated Genes
Hexosaminidase A
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
121907960
Clinvar
188812
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
272800.6.1
Morocco
1
Pathogenic
Tay-Sachs Disease
Navon and Proia, 1991
Moroccan Jew; Compound heterozygous
272800.6.2
Morocco
1
Pathogenic
Navon and Proia, 1991
Father of 272800.6.1
272800.6.4
Morocco
1
Pathogenic
Navon and Proia, 1991
First degree cousin of 272800.6.1
272800.7.1
Morocco
1
Navon and Proia, 1991
Moroccan Jew; First cousin of 272800.7.2...
272800.7.2
Morocco
1
Navon and Proia, 1991
Moroccan Jew; First cousin of 272800.7.1...
272800.8
Morocco
1
Navon and Proia, 1991
Moroccan Jew
272800.G.4
Iraq
4
Karpati et al. 2004
4 Iraqi Jews
272800.G.7
Morocco
22
Kaufman et al. 1997
22 Moroccan Jewish carriers
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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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Algeria
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Country not specified
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Morocco
Oman
Palestine
Qatar
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Arab Countries with reported incidence
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