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NM_012106.3:c.207+1G>T
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NM_012106.3:c.207+1G>T
HGVS Expressions
NG_033905.1:g.8519G>T
NM_012106.3:c.207+1G>T
Associated Genes
ADP Ribosylation Factor-Like 2-Binding Protein
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Genomic Location
16: 57248644
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
199830550
Clinvar
559501
Epidemiology in the Arab World
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Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615434.1.1
Morocco
2
Pathogenic
Retinitis Pigmentosa 82 with or without Situs Inversus
Audo et al, 2017
615434.1.2
Morocco
2
Pathogenic
Retinitis Pigmentosa 82 with or without Situs Inversus
Audo et al, 2017
Sibling of 615434.1.1
615434.1.3
Morocco
1
Pathogenic
Audo et al, 2017
Unaffected sibling of 615434.1.1
615434.1.4
Morocco
1
Pathogenic
Audo et al, 2017
Unaffected father of 615434.1.1
615434.1.5
Morocco
1
Pathogenic
Audo et al, 2017
Unaffected mother of 615434.1.1
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Contributors
Sayeeda Hana: 15.07.2019
Edit History
Sayeeda Hana: 15.07.2019
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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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