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NM_174878.3:c.301_305del
Home
NM_174878.3:c.301_305del
HGVS Expressions
NG_009168.1:g.36286_36290del
NM_174878.3:c.301_305del
NP_777367.1:p.Val101SerfsTer27
NC_000003.12:g.150941712_150941716del
Associated Genes
Clarin 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
397517932
Clinvar
48145
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
276902.1.1
Lebanon
2
Pathogenic
Usher Syndrome, Type IIIA
Akoury et al, 2011
276902.1.2
Lebanon
2
Pathogenic
Usher Syndrome, Type IIIA
Akoury et al, 2011
Brother of 276902.1.1
276902.1.3
Lebanon
1
Pathogenic
Akoury et al, 2011
Unaffected maternal grandmother of 27690...
276902.1.4
Lebanon
1
Pathogenic
Akoury et al, 2011
Unaffected father of 276902.1.1
276902.1.5
Lebanon
1
Pathogenic
Akoury et al, 2011
Unaffected mother of 276902.1.1
276902.1.6
Lebanon
1
Pathogenic
Akoury et al, 2011
Unaffected sister of 276902.1.1
276902.1.7
Lebanon
1
Pathogenic
Akoury et al, 2011
Unaffected sister of 276902.1.1
276902.1.8
Lebanon
1
Pathogenic
Akoury et al, 2011
Unaffected brother of 276902.1.1
276902.1.9
Lebanon
1
Pathogenic
Akoury et al, 2011
Unaffected brother of 276902.1.1
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Contributors
Sayeeda Hana: 01.04.2020
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 27.09.2020
Sayeeda Hana: 01.04.2020
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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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