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NM_002408.3:c.711G>C
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NM_002408.3:c.711G>C
HGVS Expressions
NG_033054.1:g.3653C>G
NM_002408.3:c.711G>C
NP_002399.1:p.Lys237Asn
NC_000014.9:g.49621979G>C
Associated Genes
Alpha-1,6-Mannosyl-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
730882218
Clinvar
30270
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
212066.2.1
Saudi Arabia
2
Pathogenic
Congenital Disorder Of Glycosylation, Type IIa
Alazami et al. 2012;
Alkuraya. 2010
Similarly affected brother and sister we...
212066.2.2
Saudi Arabia
2
Pathogenic
Congenital Disorder Of Glycosylation, Type IIa
Alazami et al. 2012;
Alkuraya. 2010
First cousin of 212066.2.1. Similarly af...
212066.2.3
Saudi Arabia
2
Pathogenic
Congenital Disorder Of Glycosylation, Type IIa
Alazami et al. 2012;
Alkuraya. 2010
Niece of 212066.2.2
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Contributors
Pratibha Nair: 14.09.2022
Edit History
Pratibha Nair: 14.09.2022
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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