NM_000053.3:c.3731delT

HGVS Expressions

  • NG_008806.1:g.78847del
  • NM_000053.3:c.3731delT
  • NP_000044.2:p.Leu1244ArgfsTer86
  • NC_000013.11:g.51937648del
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.9Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
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