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NM_004425.4:c.1300_1301delAA
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NM_004425.4:c.1300_1301delAA
HGVS Expressions
NG_012062.1:g.9558_9559delAA
NM_004425.4:c.1300_1301delAA
Associated Genes
Extracellular Matrix Protein 1
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Genomic Location
chr1:150512568-150512569
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
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
247100.6.1
Saudi Arabia
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Salih et al. 2011
247100.6.2
Saudi Arabia
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Salih et al. 2011
Sister of 247100.6.1
247100.6.3
Saudi Arabia
1
Pathogenic
Salih et al. 2011
Unaffected sister of 247100.6.1
247100.6.4
Saudi Arabia
1
Pathogenic
Salih et al. 2011
Unaffected father of 247100.6.1
247100.6.5
Saudi Arabia
1
Pathogenic
Salih et al. 2011
Unaffected mother of 247100.6.1
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Contributors
Sayeeda Hana: 07.11.2019
Edit History
Rahila Mir: 17.02.2022
Sayeeda Hana: 07.11.2019
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