NM_007374.3:c.532_536del

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HGVS Expressions

  • NG_008203.1:g.5711_5715del
  • NM_007374.3:c.532_536del
  • NP_031400.2:p.Asn178fs
  • NC_000014.9:g.60509930_60509934del

Associated Genes

Six Homeobox 6
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

786205142

Clinvar

189377

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212550.1.1Syria2PathogenicOptic Disc Anomalies with Retinal and/or Macular DystrophyDeepthi et al. 2021 Proband
212550.1.2Syria2PathogenicOptic Disc Anomalies with Retinal and/or Macular DystrophyDeepthi et al. 2021 Brother of 212550.1.1
212550.2.1Syria2Likely PathogenicOptic Disc Anomalies with Retinal and/or Macular DystrophyAldahmesh et al. 2013; Patel et al. 2018
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Contributors

  • Sayeeda Hana: 29.03.2021

Edit History

  • Pratibha Nair: 05.10.2023
  • Pratibha Nair: 04.10.2023
  • Sayeeda Hana: 29.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.