CRISPR-targeting of exon 3 deleted a single base pair. This allele is predicted to generate a protein with the N-terminal 66 amino acids of wild-type (WT) protein (643amino acids), unrelated 42 amino acids due to a frameshift, and premature termination. (J:287986)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count