NM_000350.3:c.5391_5392del

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HGVS Expressions

  • NG_009073.2:g.111536_111537del
  • NM_000350.3:c.5391_5392del
  • NP_000341.2:p.Ala1798Ter
  • NC_000001.11:g.94014613_94014614del

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205445

Clinvar

190983

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601718.1Saudi Arabia2PathogenicRetinitis Pigmentosa 19Patel et al. 2016
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Contributors

  • Sayeeda Hana: 24.07.2024

Edit History

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