This ENU-induced c.276+5G>A single nucleotide transition in a splice donor site is predicted to delete expression of exon 2 and thereby result in an in-frame deletion of amino acids Val33-Ile92, which includes much of the FKBP homology domain. (J:243745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count