A neomycin resistance cassette was inserted into exon 15 at nucleotide 2150. This mutation is predicted to cause premature truncation of the protein at codon 716. (J:25200)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count