NM_000350.3:c.607_611del

HGVS Expressions

  • NG_009073.1:g.27195_27199del
  • NM_000350.3:c.607_611del
  • NP_000341.2:p.Ile203LeufsTer75
  • NC_000001.11:g.94098952_94098956del
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
248200.6United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '18' in the publication
© CAGS 2024. All rights reserved.