CRISPR/Cas9 technology generated an A to C change resulting in an asparagine to isoleucine substitution at amino acid 193 (p.N193I). This substitution is homologous to the p.N199I mutation seen in humans with hearing loss. (J:327436)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count