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NM_004560.3:c.814C>T
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NM_004560.3:c.814C>T
HGVS Expressions
NG_008089.1:g.221918C>T
NM_004560.3:c.814C>T
NP_004551.2:p.Arg272Cys
Associated Genes
Receptor Tyrosine Kinase-Like Orphan Receptor 2
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Genomic Location
Chr9:91733245
Variant Type
Substitution
dbSNP
763809292
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
268310.1.1
Lebanon
2
NA
Robinow Syndrome, Autosomal Recessive
Mehawej et al., 2012
Patient 1
268310.1.2
Lebanon
2
NA
Robinow Syndrome, Autosomal Recessive
Mehawej et al., 2012
Patient 2, sister of 268310.1.1
268310.1.3
Lebanon
1
NA
Mehawej et al., 2012
Father of 268310.1.1 and 268310.1.2
268310.1.4
Lebanon
1
NA
Mehawej et al., 2012
Mother of 268310.1.1 and 268310.1.2
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Contributors
Asha Deepthi: 15.05.2019
Edit History
Asha Deepthi: 15.05.2019
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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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