NM_004937.3:c.422C>T

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HGVS Expressions

  • NG_012489.2:g.23846C>T
  • NM_004937.3:c.422C>T
  • NP_004928.2:p.Ser141Phe

Associated Genes

Cystinosin
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Genomic Location

chr17:3655313

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1436441738

Clinvar

651886

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.G.2.1Saudi Arabia10Likely Pathogenic, PathogenicCystinosis, NephropathicAldahmesh et al. 2009 5 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.