In an attempt to produce a knockout by deleting exons 2 and 3, the presence of an alternative ATG in exon 4 resulted in a deletion of the first 84 amino acids of the protein. (J:111333)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count