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NM_002538.4:c.514dup
Home
NM_002538.4:c.514dup
HGVS Expressions
NG_028291.1:g.22313dup
NM_002538.4:c.514dup
NP_002529.1:p.Tyr172LeufsTer104
NC_000005.10:g.69509604dup
Associated Genes
Occludin
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
730882227
Clinvar
183322
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
251290.1.1
Saudi Arabia
2
Pathogenic
Pseudo-TORCH Syndrome1
Shaheen et al. 2019
251290.1.2
Saudi Arabia
2
Pathogenic
Pseudo-TORCH Syndrome1
Shaheen et al. 2019
Relative of 251290.1.1
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Contributors
Sayeeda Hana: 28.01.2022
Edit History
Sayeeda Hana: 28.01.2022
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