NM_020366.3:c.2608_2609insA

  1. Home
  2. NM_020366.3:c.2608_2609insA

HGVS Expressions

  • NG_008933.1:g.43095_43096insA
  • NM_020366.3:c.2608_2609insA
  • NP_065099.3:p.Leu870TyrfsTer7
  • NC_000014.9:g.21326071_21326072insA

Associated Genes

Retinitis Pigmentosa GTPase Regulator-Interacting Protein
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

dbSNP

878853389

Clinvar

236503

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613826.1.1United Arab Emirates1PathogenicLeber Congenital Amaurosis 6Fakhratova, 2013 Proband
613826.1.2United Arab Emirates2PathogenicLeber Congenital Amaurosis 6Fakhratova, 2013 Sister of 613826.1.1
613826.1.3United Arab Emirates1PathogenicFakhratova, 2013 Unaffected father of 613826.1.1
613826.1.4United Arab Emirates1PathogenicFakhratova, 2013 Unaffected mother of 613826.1.1
613826.G.2United Arab Emirates6PathogenicLeber Congenital Amaurosis 6Patel et al, 2018 3 members of a family
Download Table

Contributors

  • Sayeeda Hana: 18.06.2020

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 19.06.2020
  • Sayeeda Hana: 18.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.