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NM_145649.5:c.1046A>G
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NM_145649.5:c.1046A>G
HGVS Expressions
NG_007469.3:g.139222A>G
NM_145649.5:c.1046A>G
NP_663624.1:p.Tyr349Cys
NC_000006.12:g.10626444A>G
Associated Genes
Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
148284531
Clinvar
844536
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
116700.1.1
Saudi Arabia
2
Pathogenic
Cataract 13 With Adult i Phenotype
Khan et al. 2015;
Aldahmesh et al. 2012;
Patel et al. 2017
Patient had "lensectomy and anterior vit...
116700.1.2
Saudi Arabia
2
Pathogenic
Cataract 13 With Adult i Phenotype
Khan et al. 2015;
Aldahmesh et al. 2012;
Patel et al. 2017
Sister of 116700.1.1. Patient had "lense...
116700.1.G.1
Saudi Arabia
3
Khan et al. 2015;
Aldahmesh et al. 2012
Father, mother and sibling of 116700.1.1...
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Contributors
Sayeeda Hana: 17.02.2023
Edit History
Sayeeda Hana: 17.02.2023
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Algeria
Bahrain
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