CRISPR-targeting of exon 3 produced a 13 bp deletion causing a frameshift mutation that results in a truncated protein with 61 amino acids (p.E61*). (J:300151)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count