CRISPR/Cas9 technology generated a 1 bp insertion into exon 1. This corresponds to a de novo frameshift mutation (chr1:39735167insC) located in an exon specific for one isoform that was identified in an individual with bipolar disorder. (J:322318)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count