Variant Information
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
JAK3 | chr19:17949108 | chr19:17838299 | c.1533G>A | p.M511I | Pathogenic |
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
JAK3 | chr19:17949108 | chr19:17838299 | c.1533G>A | p.M511I | Pathogenic |