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NM_147127.5:c.981delG
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NM_147127.5:c.981delG
HGVS Expressions
NG_015821.1:g.49010delG
NM_147127.5:c.981delG
NP_667338.3:p.Gly328Glufs*27
Associated Genes
EvC Ciliary Complex Subunit 2
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Genomic Location
chr4:5665539
Variant Type
Deletion
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
225500.5.1
Egypt
2
Ellis-van Creveld Syndrome
Ali et al. 2010
225500.5.2
Egypt
1
Ali et al. 2010
Father of 225500.5.1
225500.5.3
Egypt
1
Ali et al. 2010
Mother of 225500.5.1
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Contributors
Edit History
Asha Deepthi: 19.08.2020
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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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