Variant Information
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
JAK1 | chr1:65312347 | chr1:64846664 | c.1972G>T | p.V658F | Pathogenic |
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
JAK1 | chr1:65312347 | chr1:64846664 | c.1972G>T | p.V658F | Pathogenic |