Variant Information
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
NOTCH2 | chr1:120458147 | chr1:119915524 | c.7198C>T | p.R2400* | Pathogenic |
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
NOTCH2 | chr1:120458147 | chr1:119915524 | c.7198C>T | p.R2400* | Pathogenic |