NM_004937.3:c.530A>G

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HGVS Expressions

  • NG_012489.2:g.25088A>G
  • NM_004937.3:c.530A>G
  • NP_004928.2:p.Asn177Ser

Associated Genes

Cystinosin
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Genomic Location

chr17:3656555

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.2.2Saudi Arabia2Cystinosis, 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.
    © CAGS 2024. All rights reserved.