3 Matching Annotations
  1. Feb 2021
  2. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    3
    1. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.638G>A p.(Arg213Gln)

      CGType:Variant Variant:30 ClinVarID:135359 CAID:CA000302
    2. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
    3. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
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    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059