NM_001029883.3:c.3002G>A

  1. Home
  2. NM_001029883.3:c.3002G>A

HGVS Expressions

  • NG_021427.1:g.8002G>A
  • NM_001029883.3:c.3002G>A
  • NP_001025054.1:p.Trp1001Ter

Associated Genes

Photoreceptor Cilium Actin Regulator
Back to search Result
Genomic Location

chr2:29071260

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

367658438

Clinvar

438048

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613428.G.1Egypt6PathogenicRetinitis Pigmentosa 54Patel et al, 2018 3 family members
Download Table

Contributors

  • Sayeeda Hana: 04.06.2020

Edit History

  • Sayeeda Hana: 04.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.