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NM_058229.4:c.727G>C
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NM_058229.4:c.727G>C
HGVS Expressions
NM_058229.4:c.727G>C
NP_478136.1:p.Gly243Arg
Associated Genes
F-Box Only Protein 32
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Genomic Location
chr8:123506499
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
771939133
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
115200.1.01
Saudi Arabia
2
Pathogenic
Cardiomyopathy, Dilated, 1A
Al-Hassnan et al. 2016
Proband
115200.1.02
Saudi Arabia
2
Pathogenic
Cardiomyopathy, Dilated, 1A
Al-Hassnan et al. 2016
Sister of 115200.1.01
115200.1.03
Saudi Arabia
2
Pathogenic
Cardiomyopathy, Dilated, 1A
Al-Hassnan et al. 2016
Sister of 115200.1.01
115200.1.04
Saudi Arabia
2
Pathogenic
Cardiomyopathy, Dilated, 1A
Al-Hassnan et al. 2016
Brother of 115200.1.01
115200.1.05
Saudi Arabia
1
Al-Hassnan et al. 2016
Father of 115200.1.01
115200.1.06
Saudi Arabia
1
Al-Hassnan et al. 2016
Mother of 115200.1.01
115200.1.07
Saudi Arabia
1
Al-Hassnan et al. 2016
Brother of 115200.1.01
115200.1.08
Saudi Arabia
1
Al-Hassnan et al. 2016
Sister of 115200.1.01
115200.1.09
Saudi Arabia
1
Al-Hassnan et al. 2016
Brother of 115200.1.01
115200.1.10
Saudi Arabia
1
Al-Hassnan et al. 2016
Brother of 115200.1.01
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Contributors
Sayeeda Hana: 22.07.2020
Edit History
Rahila Mir: 17.02.2022
Sayeeda Hana: 22.07.2020
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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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