CRISPR/cas9 mediated recombination resulted in a 24 bp deletion, leading to loss of 9 amino acids (INQLTWKLR) and the creation of one amino acid (Met), in the leucine zipper region of the protein (p.I531_R539delinsM in NP_666498.2). (J:283803)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count