NM_000350.3:c.749del

  1. Home
  2. NM_000350.3:c.749del

HGVS Expressions

  • NG_009073.1:g.27337del
  • NM_000350.3:c.749del
  • NP_000341.2:p.Phe250SerfsTer12
  • NC_000001.11:g.94098814del

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.11United Arab Emirates2Likely PathogenicStargardt Disease 1Alabdullatif et al. 2017
Download Table

Contributors

  • Pratibha Nair: 23.06.2022

Edit History

  • Pratibha Nair: 23.06.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.