NM_000053.3:c.509delA

HGVS Expressions

  • NG_008806.1:g.41782delA
  • NM_000053.3:c.509delA
  • NP_000044.2:p.Gly170fs
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Genomic Location

Chr13:51974713

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
277900.1Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
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