NM_152443.3:c.226G>C

  1. Home
  2. NM_152443.3:c.226G>C

HGVS Expressions

  • NG_008321.1:g.28252G>C
  • NM_152443.3:c.226G>C
  • NP_689656.2:p.Gly76Arg
  • NC_000014.9:g.67725137G>C

Associated Genes

Retinol Dehydrogenase 12
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

368489658

Clinvar

1074472

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612712.1.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 13Aldahmesh et al. 2009
612712.1.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 13Aldahmesh et al. 2009 Brother of 612712.1.1
612712.1.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 13Aldahmesh et al. 2009 Brother of 612712.1.1
Download Table

Contributors

  • Sayeeda Hana: 03.11.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 12.09.2022
  • Sayeeda Hana: 03.11.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.