NM_006017.3:c.2130+2del

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  2. NM_006017.3:c.2130+2del

HGVS Expressions

  • NG_011696.2:g.101399del
  • NM_006017.3:c.2130+2del
  • NP_006008.1:p.?
  • NC_000004.12:g.15987661del

Associated Genes

Prominin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

768303070

Clinvar

941626

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612095.1.1Saudi Arabia2PathogenicRetinitis Pigmentosa 41Patel et al. 2016
612095.1.2Saudi Arabia1PathogenicRetinitis Pigmentosa 41Patel et al. 2016 Heterozygous, less severely affected son...
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Contributors

  • Sayeeda Hana: 29.07.2024

Edit History

  • Sayeeda Hana: 15.08.2024
  • Sayeeda Hana: 29.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.