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NM_001673.4:c.146G>A
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NM_001673.4:c.146G>A
HGVS Expressions
NG_033870.2:g.64552G>A
NM_001673.4:c.146G>A
NP_001664.3:p.Arg49Gln
NC_000007.14:g.97869011C>T
Associated Genes
Asparagine Synthetase
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
769236847
Clinvar
383733
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615574.2
United Arab Emirates
2
Pathogenic
Asparagine Synthetase Deficiency
Saleh et al. 2021
Affected cousin
615574.3
United Arab Emirates
2
Pathogenic
Asparagine Synthetase Deficiency
Saleh et al. 2021
615574.4.1
United Arab Emirates
2
Pathogenic
Asparagine Synthetase Deficiency
Sacharow et al. 2018
615574.4.2
United Arab Emirates
2
Pathogenic
Asparagine Synthetase Deficiency
Sacharow et al. 2018
Sister of 615574.4.1
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Contributors
Pratibha Nair: 05.10.2021
Edit History
Pratibha Nair: 12.01.2023
Sayeeda Hana: 19.10.2021
Pratibha Nair: 05.10.2021
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