This mutation, discovered in an ENU mutagenesis screen, is a G-to-T transversion at nucleotide position 2494 that results in replacement of glycine by valine at amino acid position 825 of the protein (G825V).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count