Genome-wide in vivo mutagenesis with N-ethyl N-nitrosourea (ENU) gave rise to this T-to-C mutation, which changes leucine codon 166 to a proline codon (p.L166P). (J:301620)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count