NM_000350.3:c.4793C>A

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HGVS Expressions

  • NG_009073.1:g.104455C>A
  • NM_000350.3:c.4793C>A
  • NP_000341.2:p.Ala1598Asp
  • NC_000001.11:g.94021695G>T

Associated Genes

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

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

61750155

Clinvar

99321

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.5United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '17' in the publication
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Contributors

  • Asha Deepthi: 04.04.2021

Edit History

  • Sami Bizzari: 09.01.2023
  • Asha Deepthi: 05.04.2021
  • Asha Deepthi: 04.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.