NM_000350.3:c.4567C>T

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HGVS Expressions

  • NG_009073.1:g.101129C>T
  • NM_000350.3:c.4567C>T
  • NP_000341.2:p.Gln1523Ter
  • NC_000001.11:g.94025021G>A

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1553188916

Clinvar

522465

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.4United Arab Emirates2Likely PathogenicStargardt Disease 1Khan. 2020 Patient '9' in the publication
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Contributors

  • Asha Deepthi: 04.04.2021

Edit History

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