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NM_173654.3:c.1074del
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NM_173654.3:c.1074del
HGVS Expressions
NG_042829.1:g.39219del
NM_173654.3:c.1074del
NP_775925.1:p.Phe359LeufsTer13
NC_000003.12:g.68979676del
Associated Genes
EGF Domain-Specific O-Linked N-Acetylglucosamine Transferase
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CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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All Countries
Jordan
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615297.1
Jordan
2
NA
Likely Pathogenic
Adams-Oliver Syndrome 4
Maddirevula et al. 2018
615297.3.1
Saudi Arabia
2
NA
Pathogenic
Adams-Oliver Syndrome 4
Maddirevula et al. 2018
615297.3.2
Saudi Arabia
2
NA
Pathogenic
Adams-Oliver Syndrome 4
Maddirevula et al. 2018
Relative of 615297.3.1
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Contributors
Asha Deepthi: 17.11.2021
Edit History
Rahila Mir: 08.02.2022
Asha Deepthi: 17.11.2021
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Country not specified
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Palestine
Qatar
Saudi Arabia
Somalia
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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