NM_004937.3:c.922G>A

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HGVS Expressions

  • NG_012489.2:g.28460G>A
  • NM_004937.3:c.922G>A
  • NP_004928.2:p.Gly308Arg

Associated Genes

Cystinosin
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Genomic Location

chr17:3659927

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

746307931

Clinvar

267310

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.5Morocco2PathogenicCystinosis, NephropathicMacías-Vidal et al. 2009 Patient 'CY1' in the publication
219800.7Morocco1PathogenicCystinosis, NephropathicMacías-Vidal et al. 2009 Patient 'CY47' in the publication, 2nd m...
219800.9Saudi Arabia2PathogenicCystinosis, NephropathicAldahmesh et al. 2009 Patient 'CTNS-F8-1' in the publication
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Contributors

    Edit History

    • Pratibha Nair: 09.09.2021
    • Asha Deepthi: 16.07.2020
    • Asha Deepthi: 15.07.2020
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    © CAGS 2024. All rights reserved.