NM_000350.3:c.5512C>G

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HGVS Expressions

  • NG_009073.1:g.114816C>G
  • NM_000350.3:c.5512C>G
  • NP_000341.2:p.His1838Asp
  • NC_000001.11:g.94011334G>C

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

62642562

Clinvar

99380

Epidemiology in the Arab World

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

  • Asha Deepthi: 22.07.2022

Edit History

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