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NM_000218.2:c.773A>C
Home
NM_000218.2:c.773A>C
HGVS Expressions
NG_008935.1:g.132112A>C
NM_000218.2:c.773A>C
NP_000209.2:p.His258Pro
Associated Genes
Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 1
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Genomic Location
chr11:2572102
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
199472718
Clinvar
67105
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
192500.3.01
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
192500.3.02
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Mother of 192500.3.01
192500.3.03
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Daughter of 192500.3.01
192500.3.04
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Brother of 192500.3.01
192500.3.05
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Brother of 192500.3.01
192500.3.06
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Brother of 192500.3.01
192500.3.07
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Nephew of 192500.3.01
192500.3.08
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Nephew of 192500.3.01
192500.3.09
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Nephew of 192500.3.01
192500.3.10
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Nephew of 192500.3.01
192500.3.11
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Nephew of 192500.3.01
192500.3.12
Saudi Arabia
1
Pathogenic
Long QT Syndrome 1
Shinwari et al. 2013
Nephew of 192500.3.01
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Contributors
Sayeeda Hana: 04.06.2020
Edit History
Sayeeda Hana: 04.06.2020
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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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