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NM_006329.3:c.649T>C
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NM_006329.3:c.649T>C
HGVS Expressions
NG_008254.1:g.65420T>C
NM_006329.3:c.649T>C
NP_006320.2:p.Cys217Arg
Associated Genes
Fibulin 5
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Genomic Location
chr14:91887283
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
80338766
Clinvar
21454
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
219100.1.1
Lebanon
2
Pathogenic
Cutis Laxa, Autosomal Recessive, Type IA
Claus et al, 2008
Proband
219100.1.2
Lebanon
2
Pathogenic
Cutis Laxa, Autosomal Recessive, Type IA
Claus et al, 2008
Sister of 219100.1.1
219100.1.3
Lebanon
1
Pathogenic
Claus et al, 2008
Unaffected father of 219100.1.1
219100.1.4
Lebanon
1
Pathogenic
Claus et al, 2008
Unaffected mother of 219100.1.1
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Contributors
Sayeeda Hana: 16.07.2019
Edit History
Sayeeda Hana: 16.07.2019
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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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