NM_000213.4:c.3941_3943del

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  2. NM_000213.4:c.3941_3943del

HGVS Expressions

  • NG_007372.1:g.35886_35888del
  • NM_000213.4:c.3941_3943del
  • NP_000204.3:p.Ile1314del

Associated Genes

Integrin, Beta-4
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Genomic Location

chr17:75752321-75752323

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
226730.2.1Kuwait2PathogenicEpidermolysis Bullosa, Junctional 5B, with Pyloric AtresiaSalvestrini et al. 2008 The proband had a similarly affected sis...
226730.2.2Kuwait1Salvestrini et al. 2008 Father of 226730.2.1
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Contributors

  • Sayeeda Hana: 16.09.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 18.09.2020
  • Sayeeda Hana: 16.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.