NM_201253.2:c.3159T>G

  1. Home
  2. NM_201253.2:c.3159T>G

HGVS Expressions

  • NG_008483.2:g.238561T>G
  • NM_201253.2:c.3159T>G
  • NP_957705.1:p.Cys1053Trp

Associated Genes

Crumbs, Drosophila, Homolog of, 1
Back to search Result
Genomic Location

chr1:197435022

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.G.1Saudi Arabia8PathogenicRetinitis Pigmentosa 12Aldahmesh et al. 2009 Family with 4 affected members
Download Table

Contributors

  • Sayeeda Hana: 11.08.2019

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 14.08.2019
  • Sayeeda Hana: 11.08.2019
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.