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NM_006580.3:c.704C>A
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NM_006580.3:c.704C>A
HGVS Expressions
NG_008149.1:g.25374C>A
NM_006580.3:c.704C>A
NP_006571.1:p.Ser235Tyr
Associated Genes
Claudin 16
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Genomic Location
chr3:190408425
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
104893728
Clinvar
5933
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
248250.1.1
Lebanon
2
Pathogenic
Hypomagnesemia 3, Renal
Sanjad et al, 2007
Proband
248250.1.2
Lebanon
2
Pathogenic
Hypomagnesemia 3, Renal
Sanjad et al, 2007
Sister of 248250.1.1
248250.1.3
Lebanon
2
Pathogenic
Hypomagnesemia 3, Renal
Sanjad et al, 2007
Brother of 248250.1.1
248250.1.4
Lebanon
2
Pathogenic
Hypomagnesemia 3, Renal
Sanjad et al, 2007
Nephew of 248250.1.1
248250.1.5
Lebanon
1
Pathogenic
Sanjad et al, 2007
Unaffected brother of 248250.1.1; Father...
248250.1.6
Lebanon
1
Pathogenic
Sanjad et al, 2007
Unaffected sister of 248250.1.1
248250.1.7
Lebanon
1
Pathogenic
Sanjad et al, 2007
Unaffected father of 248250.1.1
248250.1.8
Lebanon
1
Pathogenic
Sanjad et al, 2007
Unaffected mother of 248250.1.1
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Contributors
Sayeeda Hana: 22.10.2019
Edit History
Sayeeda Hana: 22.10.2019
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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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