NM_004425.4:c.1300_1301delAA

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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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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.6.1Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheSalih et al. 2011
247100.6.2Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheSalih et al. 2011 Sister of 247100.6.1
247100.6.3Saudi Arabia1PathogenicSalih et al. 2011 Unaffected sister of 247100.6.1
247100.6.4Saudi Arabia1PathogenicSalih et al. 2011 Unaffected father of 247100.6.1
247100.6.5Saudi Arabia1PathogenicSalih 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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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.