NM_004937.3:c.61+5G>A

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HGVS Expressions

  • NG_012489.2:g.8805G>A
  • NM_004937.3:c.61+5G>A

Associated Genes

Cystinosin
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Genomic Location

chr17:3640272

Variant Type

Substitution

dbSNP

1407498555

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.6Morocco2Cystinosis, NephropathicMacías-Vidal et al. 2009 Patient 'CY34' in the publication
219800.8Morocco2Cystinosis, NephropathicMacías-Vidal et al. 2009 Patient 'CY55' in the publication
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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.
    © CAGS 2024. All rights reserved.