Analysis of cDNA showed this allele comprises an A-to-T transversion at coding nucleotide 2446 (transcript NM_021099) in the tyrosine kinase domain, producing a change from arginine to tryptophan at position 816 (p.R816W). (J:27513)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count