A 4 bp deletion disrupts the first intron branchpoint and causes abnormal splicing with retention of intron 1. The deletion removes a critical adenosine that reacts to form the lariat intermediate. PCR indicated that this is a hypomorphic allele where heterozygotes have approximately 60% of normal transcript levels and homozygotes have 20%. (J:92052)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count