NM_001305066.1:c.432_434del

HGVS Expressions

  • NM_001305066.1:c.432_434del
  • NP_001291995.1:p.Trp144_His145delinsCys
  • NC_000001.11:g.54045648_54045650del

Associated Genes

Transmembrane Protein 59
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.11.1United Arab Emirates6Uncertain SignificanceMahfood et al. 2021 3 siblings (2 male, 1 female) with a mol...
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