NM_014336.5:c.834G>A

  1. Home
  2. NM_014336.5:c.834G>A

HGVS Expressions

  • NG_008474.1:g.14419G>A
  • NM_014336.5:c.834G>A
  • NP_055151.3:p.Trp278Ter
  • NC_000017.11:g.6425781C>T

Associated Genes

Arylhydrocarbon-Interacting Receptor Protein-Like 1
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

62637014

Clinvar

5565

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604393.G.2Saudi Arabia4+PathogenicLeber Congenital Amaurosis 4Patel et al. 2016 Family with unknown number of affected m...
604393.G.3Saudi Arabia4+PathogenicLeber Congenital Amaurosis 4Patel et al. 2016 Family with unknown number of affected m...
Download Table

Contributors

  • Sayeeda Hana: 02.08.2024

Edit History

  • Sayeeda Hana: 05.08.2024
  • Sayeeda Hana: 02.08.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.