A STOP cassette was inserted into exon 1. Exon 1 contains the secretion signal, so any products from putative downstream alternative transcription and translation start sites would be non-functional. (J:245942)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count