NM_000326.5:c.286_297del

  1. Home
  2. NM_000326.5:c.286_297del

HGVS Expressions

  • NG_008116.1:g.9512_9523del
  • NM_000326.5:c.286_297del
  • NP_000317.1:p.Phe96_Phe99del
  • NC_000015.10:g.89217174_89217185del

Associated Genes

Retinaldehyde-Binding Protein 1
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205626

Clinvar

191289

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.5Saudi Arabia4+PathogenicRetinitis PigmentosaPatel et al. 2016 Family with unknown number of affected m...
Download Table

Contributors

  • Sayeeda Hana: 05.08.2024

Edit History

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