A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain results in a substitution of a highly conserved valine with glycine at position 767 (P.V767G) in the third kinase subdomain. (J:16986)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count