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NM_153717.3:c.1813C>T
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NM_153717.3:c.1813C>T
HGVS Expressions
NG_008843.1:g.87448C>T
NM_153717.3:c.1813C>T
NP_714928.1:p.Gln605Ter
Associated Genes
EvC ciliary complex subunit 1
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Genomic Location
chr4:5793644
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1553889992
Clinvar
555660
Epidemiology in the Arab World
View Map
Sudan
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
225500.3.1
Sudan
2
Pathogenic
Ellis-van Creveld Syndrome
Ali et al. 2010
Patient was diagnosed prenatally by ultr...
225500.3.2
Sudan
1
Pathogenic
Ali et al. 2010
Father of 225500.3.1
225500.3.3
Sudan
1
Pathogenic
Ali et al. 2010
Mother of 225500.3.1
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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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