CRISPR-targeting deleted 8 bp in exon 22 located 11 bp upstream from the GAG codon encoding E988. The frameshift introduction of a premature TAA stop codon in exon 22 causing the loss of the C-terminus. (J:340903)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count