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NM_001385.2:c.1078T>C
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NM_001385.2:c.1078T>C
HGVS Expressions
NG_008840.1:g.44056T>C
NM_001385.2:c.1078T>C
NP_001376.1:p.Trp360Arg
NC_000008.11:g.104427994A>G
Associated Genes
Dihydropyriminidase
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121964924
Clinvar
186
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
222748.1.1
Lebanon
2
Pathogenic
Dihydropyrimidinase Deficiency
Hamajima et al., 1998;
van Gennip et al., 1997
222748.1.2
Lebanon
1
Pathogenic
Dihydropyrimidinase Deficiency
Hamajima et al., 1998
Mother of 222748.1.1
222748.1.3
Lebanon
1
Pathogenic
Dihydropyrimidinase Deficiency
Hamajima et al., 1998
Father of 222748.1.1
222748.1.4
Lebanon
1
Pathogenic
Dihydropyrimidinase Deficiency
Hamajima et al., 1998
Maternal grandfather of 222748.1.1
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Contributors
Pratibha Nair: 03.03.2019
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 03.03.2019
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Algeria
Bahrain
Comoros
Country not specified
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Mauritania
Morocco
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Palestine
Qatar
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Arab Countries with reported incidence
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Non-Arab Countries
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