A G to A transition in the last base of intron 5 led to a splice defect, skipping exons 5a and 6, which comprise a large part of the paired domain, while leaving the homeo- and transactivation domains intact. (J:103785)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count