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NM_001004334.3:c.1807C>T
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NM_001004334.3:c.1807C>T
HGVS Expressions
NG_032655.2:g.14795C>T
NM_001004334.3:c.1807C>T
NP_001004334.3:p.His603Tyr
Associated Genes
G Protein-Coupled Receptor 179
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Genomic Location
chr17:38334016
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
281875234
Clinvar
31200
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614565.1.1
Lebanon
2
Pathogenic
Night Blindness, Congenital Stationary, Type 1E
Audo et al. 2012
614565.1.2
Lebanon
2
Pathogenic
Night Blindness, Congenital Stationary, Type 1E
Audo et al. 2012
Sibling of 614565.1.1
614565.1.3
Lebanon
2
Pathogenic
Night Blindness, Congenital Stationary, Type 1E
Audo et al. 2012
Sibling of 614565.1.1
614565.1.4
Lebanon
1
Pathogenic
Audo et al. 2012
Mother of 614565.1.1
614565.1.5
Lebanon
1
Pathogenic
Night Blindness, Congenital Stationary, Type 1E
Audo et al. 2012
Father of 614565.1.1
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Contributors
Pratibha Nair: 31.03.2020
Edit History
Pratibha Nair: 31.03.2020
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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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