CRISPR-targeting of exon 6 produced a 5 bp deletion that introduced a frameshift and premature termination at the start of the jumonji C (JmjC) domain resulting in a predicted peptide length of 255 amino acids. (J:308865)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count