NM_004425.4:c.121+1G>C

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HGVS Expressions

  • NG_012062.1:g.6572G>C
  • NM_004425.4:c.121+1G>C
  • NC_000001.11:g.150509582G>C

Associated Genes

Extracellular Matrix Protein 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.1.1Lebanon2PathogenicLipoid Proteinosis of Urbach and WietheAbbas et al, 2013 The patient also had two cousins with si...
247100.1.2Lebanon2PathogenicLipoid Proteinosis of Urbach and WietheAbbas et al, 2013 Brother of 247100.1.1
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Contributors

  • Sayeeda Hana: 05.11.2019

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 05.11.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.