NM_004744.5:c.233_242del

  1. Home
  2. NM_004744.5:c.233_242del

HGVS Expressions

  • NG_009110.1:g.5549_5558del
  • NM_004744.5:c.233_242del
  • NP_001288574.1:p.Leu78fs

Associated Genes

Lecithin Retinol Acyltransferase
Back to search Result
Genomic Location

chr4:154744559-154744568

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205644

Clinvar

191324

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613341.G.1Saudi Arabia4PathogenicLeber Congenital Amaurosis 14Patel et al, 2018 2 family members
Download Table

Contributors

  • Sayeeda Hana: 17.06.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 17.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.