2 Matching Annotations
  1. Mar 2021
    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 120.5

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 10.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    2. we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2317C>T p.(Pro773Ser)