NM_004937.3:c.1013T>G

HGVS Expressions

  • NG_012489.2:g.28811T>G
  • NM_004937.3:c.1013T>G
  • NP_004928.2:p.Leu338Arg

Associated Genes

Cystinosin
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Genomic Location

chr17:3660278

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
219800.G.2.5Saudi Arabia12Cystinosis, NephropathicAldahmesh et al. 2009 6 patients with cystinosis
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