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NM_001139.3:c.1294C>T
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NM_001139.3:c.1294C>T
HGVS Expressions
NG_007099.2:g.15992C>T
NM_001139.3:c.1294C>T
NP_001130.1:p.Arg432Ter
NC_000017.11:g.8076725G>A
Associated Genes
Arachidonate 12-Lipoxygenase, R Type
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397514527
Clinvar
39539
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
242100.1.1
Lebanon
2
Pathogenic
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Kurban et al, 2010
242100.1.2
Lebanon
1
Pathogenic
Kurban et al, 2010
Unaffected father of 242100.1.1
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Contributors
Sayeeda Hana: 13.02.2020
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 13.02.2020
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Algeria
Bahrain
Comoros
Country not specified
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Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
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Arab Countries with reported incidence
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