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NM_001039958.2:c.500_503dup
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NM_001039958.2:c.500_503dup
HGVS Expressions
NG_008608.1:g.5500_5503dup
NM_001039958.2:c.500_503dup
NP_001035047.1:p.Gly169fs
Associated Genes
Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 2
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Genomic Location
15: 89776857-89776860
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
113994158
Clinvar
5183
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
608681.1.1
Lebanon
2
Pathogenic
Spondylocostal Dysostosis, Autosomal Recessive 2
Whittock et al, 2004
608681.1.2
Lebanon
2
Pathogenic
Spondylocostal Dysostosis, Autosomal Recessive 2
Whittock et al, 2004
sibling of the proband 608681.1.1
608681.1.3
Lebanon
1
Pathogenic
Whittock et al, 2004
Healthy mother of the affected siblings ...
608681.1.4
Lebanon
1
Pathogenic
Whittock et al, 2004
Healthy father of the affected siblings ...
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Contributors
Sami Bizzari: 17.02.2020
Edit History
Sayeeda Hana: 26.09.2020
Sami Bizzari: 07.05.2020
Sami Bizzari: 17.02.2020
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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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