NM_001553.3:c.830-1G>A

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  2. NM_001553.3:c.830-1G>A

HGVS Expressions

  • NG_031877.1:g.84049G>A
  • NM_001553.3:c.830-1G>A
  • NP_001544.1:p.?
  • NC_000004.12:g.57031337C>T

Associated Genes

Insulin-Like Growth Factor-Binding Protein 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

866994863

Clinvar

30280

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602867.1United Arab Emirates2PathogenicRetinal Arterial Macroaneurysm with Supravalvular Pulmonic StenosisSaleh et al. 2021 Similarly affected sister
614224.G.1United Arab Emirates4Likely PathogenicRetinal Arterial Macroaneurysm with Supravalvular Pulmonic StenosisKhan et al. 2022 Two siblings from an Emirati family
614224.G.2Saudi Arabia34PathogenicRetinal Arterial Macroaneurysm with Supravalvular Pulmonic StenosisAbu-Safieh et al. 2011; Dhindsa and Abboud, 2002 17 patients (11males; 6 females) from se...
614224.G.3Saudi Arabia10PathogenicRetinal Arterial Macroaneurysm with Supravalvular Pulmonic StenosisAbu-Safieh et al. 2011; Dhindsa and Abboud, 2002 Five patients (1 male; 4 females) from '...
614224.G.4Saudi Arabia1Abu-Safieh et al. 2011 One out of 300 controls. This individual...
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Contributors

  • Pratibha Nair: 07.01.2022

Edit History

  • Asha Deepthi: 29.03.2023
  • Pratibha Nair: 30.11.2022
  • Pratibha Nair: 18.07.2022
  • Pratibha Nair: 07.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.