NM_002335.4:c.685C>T

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HGVS Expressions

  • NG_015835.3:g.64436C>T
  • NM_002335.4:c.685C>T
  • NP_002326.2:p.Arg229Trp
  • NC_000011.10:g.68357846C>T

Associated Genes

Low Density Lipoprotein Receptor-Related Protein 5
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

772580577

Clinvar

191023

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601813.2Saudi Arabia2PathogenicExudative Vitreoretinopathy 4Patel et al. 2016
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Contributors

  • Sayeeda Hana: 11.08.2024

Edit History

  • Sayeeda Hana: 11.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.