NM_000053.3:c.3373_3377delATAinsTCT

HGVS Expressions

  • NG_008806.1:g.74070_74074delATAinsTCT
  • NM_000053.3:c.3373_3377delATAinsTCT
  • NP_000044.2:p.His1126fs
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Genomic Location

Chr13:51942421_51942425

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.G.7Egypt8PathogenicWilson DiseaseAbdel Ghaffar et al. 2011 4 patients
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