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NM_017755.6:c.538-1G>C
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NM_017755.6:c.538-1G>C
HGVS Expressions
NG_028215.1:g.16260G>C
NM_017755.6:c.538-1G>C
Associated Genes
NOL1/NOP2/SUN Domain Family, Member 2
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Genomic Location
chr5:6622101
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1560982564
Clinvar
37005
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
611091.2.1
Lebanon
2
Pathogenic
Mental Retardation, Autosomal Recessive 5
Martinez et al. 2012
The novel mutation deletes the splice ac...
611091.2.2
Lebanon
2
Pathogenic
Mental Retardation, Autosomal Recessive 5
Martinez et al. 2012
611091.2.3
Lebanon
2
Pathogenic
Mental Retardation, Autosomal Recessive 5
Martinez et al. 2012
611091.2.4
Lebanon
1
Pathogenic
Martinez et al. 2012
Mother of siblings 611091.2.1-611091.2.3
611091.2.5
Lebanon
1
Pathogenic
Martinez et al. 2012
Father of siblings 611091.2.1-611091.2.3
Download Table
Contributors
Sami Bizzari: 03.09.2020
Edit History
Pratibha Nair: 03.09.2020
Sami Bizzari: 03.09.2020
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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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