NM_000350.3:c.3898C>T

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HGVS Expressions

  • NG_009073.1:g.94142C>T
  • NM_000350.3:c.3898C>T
  • NP_000341.2:p.Arg1300Ter
  • NC_000001.11:g.94032008G>A

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

61752427

Clinvar

99245

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.8United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '20' in the publication
248200.G.6United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 23' in the publi...
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Contributors

  • Asha Deepthi: 04.04.2021

Edit History

  • Sami Bizzari: 09.01.2023
  • Asha Deepthi: 21.07.2022
  • Asha Deepthi: 05.04.2021
  • Asha Deepthi: 04.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.