NM_000350.3:c.5714+5G>A

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HGVS Expressions

  • NG_009073.1:g.115355G>A
  • NM_000350.3:c.5714+5G>A
  • NP_000341.2:p.?
  • NC_000001.11:g.94010795C>T

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

Substitution

dbSNP

61751407

Clinvar

99403

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.G.5United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 22' in the publi...
248200.G.9United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 28' in the publi...
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Contributors

  • Asha Deepthi: 21.07.2022

Edit History

  • Sami Bizzari: 09.01.2023
  • Asha Deepthi: 29.11.2022
  • Asha Deepthi: 22.07.2022
  • Asha Deepthi: 21.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.