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NM_000359.3:c.428G>A
Home
NM_000359.3:c.428G>A
HGVS Expressions
NG_007150.2:g.6392G>A
NM_000359.3:c.428G>A
NP_000350.1:p.Arg143His
Associated Genes
Transglutaminase 1
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Genomic Location
chr14:24261775
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121918719
Clinvar
12481
Epidemiology in the Arab World
View Map
Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
242300.5.1
Egypt
2
Pathogenic
Ichthyosis, Lamellar, 1
Russell et al. 1995
242300.5.2
Egypt
2
Pathogenic
Ichthyosis, Lamellar, 1
Russell et al. 1995
First cousin, once removed, of 242300.5....
242300.5.3
Egypt
1
Russell et al. 1995
Father of 242300.5.1
242300.5.4
Egypt
1
Russell et al. 1995
Mother of 242300.5.1
242300.5.5
Egypt
1
Russell et al. 1995
Father of 242300.5.2
242300.5.6
Egypt
1
Russell et al. 1995
Mother of 242300.5.2
242300.6.1
Egypt
2
Pathogenic
Ichthyosis, Lamellar, 1
Shawky et al. 2004
The patient had an affected brother that...
242300.6.2
Egypt
1
Shawky et al. 2004
Father of 242300.6.1
242300.7.1
Egypt
2
Pathogenic
Ichthyosis, Lamellar, 1
Shawky et al. 2004
The patient had a similarly affected fem...
242300.7.2
Egypt
1
Shawky et al. 2004
Mother of 242300.7.1
242300.8.1
Egypt
2
Pathogenic
Ichthyosis, Lamellar, 1
Shawky et al. 2004
The patient had a similarly affected sis...
242300.8.2
Egypt
1
Shawky et al. 2004
Mother of 242300.8.1
242300.9.1
Egypt
2
Pathogenic
Ichthyosis, Lamellar, 1
Shawky et al. 2004
242300.9.2
Egypt
1
Shawky et al. 2004
Mother of 242300.9.1
242300.10.1
Egypt
2
Pathogenic
Ichthyosis, Lamellar, 1
Shawky et al. 2004
The patient had a similarly affected bro...
242300.10.2
Egypt
1
Pathogenic
Ichthyosis, Lamellar, 1
Shawky et al. 2004
Mother of 242300.10.1
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Contributors
Sayeeda Hana: 01.09.2020
Edit History
Sayeeda Hana: 01.09.2020
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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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