NM_004937.3:c.923G>A

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HGVS Expressions

  • NG_012489.2:g.28461G>A
  • NM_004937.3:c.923G>A
  • NP_004928.2:p.Gly308Glu

Associated Genes

Cystinosin
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Genomic Location

chr17:3659928

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.2Arab2Cystinosis, NephropathicShahkarami et al. 2013 Patient 'P5' in the publication
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Contributors

    Edit History

    • Sayeeda Hana: 01.06.2021
    • Asha Deepthi: 16.07.2020
    • Asha Deepthi: 15.07.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.