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NM_001698.2:c.589C>T
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NM_001698.2:c.589C>T
HGVS Expressions
NG_008017.1:g.68932C>T
NM_001698.2:c.589C>T
NP_001689.1:p.Arg197Ter
Associated Genes
AU-Specific RNA-Binding Protein
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Genomic Location
Chr9:91297993
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121434636
Clinvar
9056
Epidemiology in the Arab World
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Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
250950.2.1
Morocco
2
Pathogenic
3-Methylglutaconic Aciduria, Type I
Duran et al, 1982;
IJlst et al, 2002
250950.2.2
Morocco
2
Pathogenic
3-Methylglutaconic Aciduria, Type I
Duran et al, 1982;
IJlst et al, 2002
Brother of 250950.2.1
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Contributors
Pratibha Nair: 09.10.2018
Edit History
Pratibha Nair: 16.01.2019
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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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