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NM_006755.2:c.574C>T
Home
NM_006755.2:c.574C>T
HGVS Expressions
NG_008160.1:g.21025C>T
NM_006755.2:c.574C>T
NP_006746.1:p.Arg192Cys
NC_000011.10:g.763456C>T
Associated Genes
Transaldolase 1
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Clinvar Clinical Significance
Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic, Risk factor
Variant Type
Substitution
dbSNP
751425603
Clinvar
381759
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
606003.1.1
United Arab Emirates
2
Pathogenic
Transaldolase Deficiency
Al-Shamsi et al. 2014
Belongs to a tribe of Saudi Arabian orig...
606003.1.2
United Arab Emirates
2
Pathogenic
Transaldolase Deficiency
Al-Shamsi et al. 2014
Paternal aunt of 606003.1.1
606003.2
United Arab Emirates
2
Pathogenic, Risk factor
Hepatocellular Carcinoma;
Transaldolase Deficiency
Al-Shamsi et al. 2014;
Grammatikopoulos et al. 2022
Belongs to a tribe of Saudi Arabian orig...
606003.3
United Arab Emirates
2
Pathogenic
Transaldolase Deficiency
Al-Shamsi et al. 2014
Belongs to a tribe of Saudi Arabian orig...
606003.7
United Arab Emirates
2
Pathogenic
Transaldolase Deficiency
Takaleh et al. 2014
Patient had two siblings who died after ...
606003.8
United Arab Emirates
2
Pathogenic
Transaldolase Deficiency
Takaleh et al. 2014
Patient had a sister with recurrent ches...
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Contributors
Pratibha Nair: 11.08.2020
Edit History
Sayeeda Hana: 02.09.2024
Pratibha Nair: 29.11.2022
Pratibha Nair: 23.08.2022
Sami Bizzari: 01.03.2022
Pratibha Nair: 11.08.2020
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