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NM_004963.3:c.2008G>A
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NM_004963.3:c.2008G>A
HGVS Expressions
NG_052021.1:g.60444G>A
NM_004963.3:c.2008G>A
NP_004954.2:p.Ala670Thr
Associated Genes
Guanylate Cyclase 2C
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Genomic Location
chr12:14641142
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587784572
Clinvar
161158
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614665.1.2
Lebanon
1
Pathogenic
Meconium Ileus
Smith et al, 2015
Brother of 614665.1.1
614665.1.5
Lebanon
1
Pathogenic
Smith et al, 2015
Unaffected mother of 614665.1.1
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Contributors
Sayeeda Hana: 27.07.2019
Edit History
Sayeeda Hana: 27.07.2019
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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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