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NM_001909.5:c.1155_1169dup
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NM_001909.5:c.1155_1169dup
HGVS Expressions
NG_008655.1:g.15406_15420dup
NM_001909.5:c.1155_1169dup
NP_001900.1:p.Phe389_Ile390insMetGlyAspValPhe
NC_000011.10:g.1753574_1753588dup
Associated Genes
Cathepsin D
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
730882208
Clinvar
183293
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
610127.1.1
Saudi Arabia
2
Pathogenic
Ceroid Lipofuscinosis, Neuronal, 10
Shaheen et al. 2019
610127.1.2
Saudi Arabia
2
Pathogenic
Ceroid Lipofuscinosis, Neuronal, 10
Shaheen et al. 2019
Relative of 610127.1.1
610127.1.3
Saudi Arabia
2
Pathogenic
Ceroid Lipofuscinosis, Neuronal, 10
Shaheen et al. 2019
Relative of 610127.1.1
610127.1.4
Saudi Arabia
2
Pathogenic
Ceroid Lipofuscinosis, Neuronal, 10
Shaheen et al. 2019
Relative of 610127.1.1
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Contributors
Sayeeda Hana: 28.01.2022
Edit History
Sayeeda Hana: 28.01.2022
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
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Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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