Analysis of cDNA showed this allele comprises a G-to-A transition at coding nucleotide 1783 (in transcript NM_001122733) in the tyrosine kinase domain, resulting in a change of glycine to arginine at position 595 (p.G595R). (J:27513)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count