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
Back to search Result
Genomic Location

chr17:75752321-75752323

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
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
© CAGS 2024. All rights reserved.