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NM_001673.5:c.1193A>G
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NM_001673.5:c.1193A>G
HGVS Expressions
NG_033870.2:g.78938A>G
NM_001673.5:c.1193A>G
NP_001664.3:p.Tyr398Cys
NC_000007.14:g.97854625T>C
Associated Genes
Asparagine Synthetase
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Clinvar Clinical Significance
Likely Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1166271142
Clinvar
800997
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615574.5
Saudi Arabia
2
Pathogenic
Asparagine Synthetase Deficiency
Shaheen et al. 2019
615574.8.1
Saudi Arabia
2
Pathogenic
Asparagine Synthetase Deficiency
Shaheen et al. 2019
615574.8.2
Saudi Arabia
2
Pathogenic
Asparagine Synthetase Deficiency
Shaheen et al. 2019
Relative of 615574.8.1
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Contributors
Sayeeda Hana: 24.01.2022
Edit History
Sayeeda Hana: 25.01.2022
Sayeeda Hana: 24.01.2022
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