NM_012193.4:c.349T>C

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  2. NM_012193.4:c.349T>C

HGVS Expressions

  • NG_011752.2:g.7988T>C
  • NM_012193.4:c.349T>C
  • NP_036325.2:p.Cys117Arg
  • NC_000011.10:g.86952407A>G

Associated Genes

Frizzled Class Receptor 4
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

59432455

Clinvar

812323

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
133780.G.1Saudi Arabia2PathogenicExudative Vitreoretinopathy 1Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 11.08.2024

Edit History

  • Sayeeda Hana: 11.08.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.