NM_004937.3:c.562-1G>C

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HGVS Expressions

  • NG_012489.2:g.25208G>C
  • NM_004937.3:c.562-1G>C

Associated Genes

Cystinosin
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Genomic Location

chr17:3656675

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.G.2.4Saudi Arabia4Cystinosis, NephropathicAldahmesh et al. 2009 2 patients with cystinosis
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Contributors

    Edit History

    • Asha Deepthi: 16.07.2020
    • Asha Deepthi: 15.07.2020
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    © CAGS 2024. All rights reserved.