NM_152443.3:c.226G>C

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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
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

368489658

Clinvar

1074472

Epidemiology in the Arab World

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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
612712.G.5Saudi Arabia4+PathogenicLeber Congenital Amaurosis 13Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 03.11.2020

Edit History

  • Sayeeda Hana: 28.08.2024
  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 12.09.2022
  • Sayeeda Hana: 03.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.