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NM_002335.4:c.1655C>T
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NM_002335.4:c.1655C>T
HGVS Expressions
NG_015835.3:g.110143C>T
NM_002335.4:c.1655C>T
NP_002326.2:p.Thr552Met
NC_000011.10:g.68403553C>T
Associated Genes
Low Density Lipoprotein Receptor-Related Protein 5
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397514663
Clinvar
40287
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
601813.1
Saudi Arabia
2
Pathogenic
Exudative Vitreoretinopathy 4
Patel et al. 2016
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Contributors
Sayeeda Hana: 31.07.2024
Edit History
Sayeeda Hana: 31.07.2024
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