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NM_001297764.2:c.497-2del
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NM_001297764.2:c.497-2del
HGVS Expressions
NG_011883.2:g.22375del
NM_001297764.2:c.497-2del
Associated Genes
USH1C Gene
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Genomic Location
chr11:17527042
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1480243085
Clinvar
5140
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
276904.1.1
Lebanon
2
Pathogenic
Usher Syndrome, Type IC
Verpy et al, 2000;
Saouda et al. 1998
276904.1.2
Lebanon
2
Pathogenic
Usher Syndrome, Type IC
Verpy et al, 2000
Sister of 276904.1.1
276904.1.3
Lebanon
2
Pathogenic
Usher Syndrome, Type IC
Verpy et al, 2000
Brother of 276904.1.1
276904.1.4
Lebanon
1
Pathogenic
Verpy et al, 2000
Unaffected father of 276904.1.1
276904.1.5
Lebanon
1
Pathogenic
Verpy et al, 2000
Unaffected mother of 276904.1.1
276904.1.6
Lebanon
1
Pathogenic
Verpy et al, 2000
Unaffected brother of 276904.1.1
276904.1.7
Lebanon
1
Pathogenic
Verpy et al, 2000
Unaffected sister of 276904.1.1
276904.1.8
Lebanon
1
Pathogenic
Verpy et al, 2000
Unaffected sister of 276904.1.1
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Contributors
Sayeeda Hana: 03.04.2020
Edit History
Sayeeda Hana: 03.04.2020
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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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