CRISPR/cas9 genome editing generated a 1 nt insertion followed immediately by the 3 nt deletion (indel mutation). This net 2 nt deletion is predicted to cause a frameshift at Cys-286 for 71 amino acids and terminating at a TAA stop codon positioned within the 3' UTR. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count