NM_000554.6:c.695del

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HGVS Expressions

  • NG_008605.1:g.22921del
  • NM_000554.6:c.695del
  • NP_000545.1:p.Pro232ArgfsTer139
  • NC_000019.10:g.47839762del

Associated Genes

Cone-Rod Homeobox-Containing Gene
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205630

Clinvar

191298

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.2Saudi Arabia2+PathogenicRetinitis PigmentosaPatel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 24.07.2024

Edit History

  • Sayeeda Hana: 02.08.2024
  • Sayeeda Hana: 24.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.