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NM_017890.4:c.9406-1G>T
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NM_017890.4:c.9406-1G>T
HGVS Expressions
NG_007098.2:g.824103G>T
NM_017890.4:c.9406-1G>T
NP_060360.3:p.?
NC_000008.11:g.99832368G>T
Associated Genes
Vacuolar Protein Sorting 13, Yeast, Homolog of, B
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
386834119
Clinvar
189197
Epidemiology in the Arab World
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Lebanon
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100
entries
Search:
Subject ID
Country of Origin
Allele Count
CTGA Clinical Significance
Condition(s)
Reference
Remarks
216550.5.1
Lebanon
2
Pathogenic
Cohen Syndrome
Mégarbané et al. 2001;
Mégarbané et al, 2009
216550.5.2
Lebanon
2
Pathogenic
Cohen Syndrome
Mégarbané et al. 2001;
Mégarbané et al, 2009
Brother of 216550.5.1
216550.5.3
Lebanon
1
Pathogenic
Mégarbané et al. 2001;
Mégarbané et al, 2009
Unaffected mother of 216550.5.1
216550.5.4
Lebanon
1
Pathogenic
Mégarbané et al. 2001;
Mégarbané et al, 2009
Unaffected sister of 216550.5.1
268050.1.1
Lebanon
2
Pathogenic
Retinopathy, Pigmentary, and Mental Retardation
Hennies et al. 2004
Brother of 268050.1.2, Cousin of 268050....
268050.1.2
Lebanon
2
Pathogenic
Retinopathy, Pigmentary, and Mental Retardation
Hennies et al. 2004
Brother of 268050.1.1, Cousin of 268050....
268050.1.3
Lebanon
2
Pathogenic
Retinopathy, Pigmentary, and Mental Retardation
Hennies et al. 2004
Cousin of 268050.1.1 and 268050.1.2
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Contributors
Edit History
Pratibha Nair: 08.11.2022
Pratibha Nair: 12.10.2022
Sayeeda Hana: 17.03.2020
Pratibha Nair: 24.12.2018
Pratibha Nair: 06.12.2018
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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