Identified in an ENU-mutagenesis experiment. The mutation is identified as a transversion AT-TA point mutation in exon 6 in codon 159, resulting in an amino acid substitution: valine to glutamate at residue 159 (V159E). (J:79493)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count