NM_201253.3:c.2024G>A

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HGVS Expressions

  • NG_008483.2:g.225391G>A
  • NM_201253.3:c.2024G>A
  • NP_957705.1:p.Trp675Ter
  • NC_000001.11:g.197421852G>A

Associated Genes

Crumbs, Drosophila, Homolog of, 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

978992

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613835.2.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 8Li et al. 2009
613835.2.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 8Li et al. 2009 Brother of 613835.2.1
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Contributors

  • Sayeeda Hana: 11.08.2019

Edit History

  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 14.08.2019
  • Sayeeda Hana: 11.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.