ENU mutagenesis produced a pedigree line 4620 with a nucleotide substitution within exon 10 that results in an amino acid substitution of leucine for serine at position 1748 (S1748L). (J:149088)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count