NM_005208.5:c.588_591del

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  2. NM_005208.5:c.588_591del

HGVS Expressions

  • NG_008037.1:g.12433_12436del
  • NM_005208.5:c.588_591del
  • NP_005199.2:p.Arg196SerfsTer21
  • NC_000017.11:g.29254289_29254292del

Associated Genes

Crystallin, Beta-A1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

786205628

Clinvar

191293

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600881.1.1Saudi Arabia2PathogenicCataract 10, Multiple TypesKhan et al. 2015; Patel et al. 2017 Patient had lens aspiration and anterior...
600881.1.2Saudi Arabia2PathogenicCataract 10, Multiple TypesKhan et al. 2015; Patel et al. 2017 Brother of 600881.1.1. Patient had lens ...
600881.1.G.1Saudi Arabia1Khan et al. 2015 Father, mother and two sisters of 600881...
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Contributors

  • Sayeeda Hana: 29.01.2023

Edit History

  • Sayeeda Hana: 02.02.2023
  • Sayeeda Hana: 30.01.2023
  • Sayeeda Hana: 29.01.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.