CRISPR/Cas9 technology generated an 11 bp deletion in exon 19. This is predicted to produce a protein consisting of 956 amino acids instead of the 1071 amino acids in the wild-type protein, lacking the DNA binding domain. (J:338977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count