NM_004937.3:c.681G>A

HGVS Expressions

  • NG_012489.2:g.25328G>A
  • NM_004937.3:c.681G>A
  • NP_004928.2:p.Glu227=
  • NC_000017.11:g.3656795G>A

Associated Genes

Cystinosin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

553330

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.3Arab1PathogenicCystinosis, NephropathicShahkarami et al. 2013 Compound heterozygous patient 'P8' in th...
219800.4Arab1PathogenicCystinosis, NephropathicShahkarami et al. 2013 Compound heterozygous patients 'P11' in ...
219800.10United Arab Emirates2PathogenicCystinosis, NephropathicAl-Jasmi et al. 2013
219800.G.1Arab16PathogenicCystinosis, NephropathicShahkarami et al. 2013 8 patients of Arab origin
219800.G.2.3Saudi Arabia6PathogenicCystinosis, NephropathicAldahmesh et al. 2009 3 patients with cystinosis
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