4 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor
    4
    1. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: 53

      AssayResultAssertion: Indeterminate

      PValue: < 0.0001

      Approximation: Exact assay result value not reported; value estimated from Figure 6C.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:15 CAID:CA395144524 ClinVarID:657666
    2. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: -25

      AssayResultAssertion: Abnormal

      PValue: < 0.01

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:15 CAID:CA395144524 ClinVarID:657666
    3. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: 77.32

      AssayResultAssertion: Indeterminate

      PValue: 0.0002

      Comment: Exact values reported in Table S3.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:15 CAID:CA395144524 ClinVarID:657666
    4. shannon_mcnulty 18 Mar 2021
      To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.2841G>C p.(Leu947Phe)

      CGType:Variant CG:BulkAnnotation Variant:15 ClinVarID:657666 CAID:CA395144524
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    ncbi.nlm.nih.gov/pmc/articles/PMC6847799/