NM_000350.3:c.5882G>A

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HGVS Expressions

  • NG_009073.1:g.117899G>A
  • NM_000350.3:c.5882G>A
  • NP_000341.2:p.Gly1961Glu
  • NC_000001.11:g.94008251C>T

Associated Genes

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

Benign, Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Benign, Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1800553

Clinvar

7888

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
248200.6United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '18' in the publication
248200.7United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '19' in the publication
248200.8United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '20' in the publication
248200.10United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '22' in the publication
248200.G.2United Arab Emirates22Likely PathogenicStargardt Disease 1Khan. 2020 11 patients with childhood-onset form of...
248200.G.4United Arab Emirates2Likely PathogenicStargardt Disease 1Khan. 2020 2 related patients (siblings) with adult...
248200.G.6United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 23' in the publi...
248200.G.7United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 25' in the publi...
248200.G.8United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 27' in the publi...
248200.G.9United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 28' in the publi...
248200.G.10United Arab EmiratesNANAPathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 31' in the publi...
601691.G.1Somalia7Likely BenignGuymer et al. 2001 Group of 7 individuals out of 62 healthy...
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Contributors

  • Sayeeda Hana: 18.07.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Sami Bizzari: 09.01.2023
  • Asha Deepthi: 22.07.2022
  • Asha Deepthi: 21.07.2022
  • Asha Deepthi: 05.04.2021
  • Asha Deepthi: 04.04.2021
  • Sayeeda Hana: 18.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.