NM_000094.3:c.7929+11_26del16

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  2. NM_000094.3:c.7929+11_26del16

HGVS Expressions

  • NG_007065.1:g.32426_32441del
  • NM_000094.3:c.7929+11_26del16

Associated Genes

Collagen, Type VII, Alpha-1
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Genomic Location

chr3:48567815-48567830

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

773394779

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226600.2.1Syria2PathogenicEpidermolysis Bullosa Dystrophica, Autosomal RecessiveFarooq et al, 2013
226600.2.2Syria1PathogenicFarooq et al, 2013 Father of 226600.2.1
226600.2.3Syria1PathogenicFarooq et al, 2013 Mother of 226600.2.1
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Contributors

  • Sayeeda Hana: 14.05.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 04.10.2020
  • Sayeeda Hana: 14.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.