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NC_000004.11:g.(?_93978239)_(94078203_?)del
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NC_000004.11:g.(?_93978239)_(94078203_?)del
HGVS Expressions
NC_000004.11:g.(?_93978239)_(94078203_?)del
Associated Genes
Glutamate Receptor, Ionotropic, Delta 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Clinvar
242880
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616204.1
Saudi Arabia
2
Pathogenic
Spinocerebellar Ataxia, Autosomal Recessive 18
Charng et al. 2016
Proband from 'family 041' in the publica...
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Contributors
Asha Deepthi: 20.08.2024
Edit History
Asha Deepthi: 20.08.2024
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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