NM_000350.3:c.4328G>A

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HGVS Expressions

  • NG_009073.1:g.95698G>A
  • NM_000350.3:c.4328G>A
  • NP_000341.2:p.Arg1443His
  • NC_000001.11:g.94030452C>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

61750142

Clinvar

99278

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.9United Arab Emirates1PathogenicStargardt Disease 1Khan. 2020 Patient '21' in the publication
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Contributors

  • Asha Deepthi: 04.04.2021

Edit History

  • Sami Bizzari: 15.02.2023
  • 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.