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NM_004425.4:c.1019delA
Home
NM_004425.4:c.1019delA
HGVS Expressions
NG_012062.1:g.8757delA
NM_004425.4:c.1019delA
NP_004416.2:p.Gln340ArgfsTer37
NC_000001.11:g.150511767del
Associated Genes
Extracellular Matrix Protein 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
778473713
Clinvar
7471
Epidemiology in the Arab World
View Map
Kuwait
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
247100.2.1
Kuwait
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Hamada et al. 2002
247100.2.2
Kuwait
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Hamada et al. 2002
Sibling of 247100.2.1
247100.2.3
Kuwait
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Hamada et al. 2002
Sibling of 247100.2.1
247100.2.4
Kuwait
1
Pathogenic
Hamada et al. 2002
Unaffected father of 247100.2.1
247100.2.5
Kuwait
1
Pathogenic
Hamada et al. 2002
Unaffected mother of 247100.2.1
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Contributors
Sayeeda Hana: 07.11.2019
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 07.11.2019
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Algeria
Bahrain
Comoros
Country not specified
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Egypt
Eritrea
Iraq
Jordan
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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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