NM_020989.4:c.403G>T

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HGVS Expressions

  • NG_008038.1:g.6506G>T
  • NM_020989.4:c.403G>T
  • NP_066269.1:p.Glu135Ter
  • NC_000002.12:g.208128325C>A

Associated Genes

Crystallin, Gamma-C
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

750872744

Clinvar

191147

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604307.G.1Saudi Arabia7PathogenicCataract, Coppock-LikePatel et al. 2017 7 patients
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Contributors

  • Sayeeda Hana: 10.03.2023

Edit History

  • Sayeeda Hana: 13.03.2023
  • Sayeeda Hana: 10.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.