There is a 20 bp deletion in the last exon of the gene. This results in a frame shift after the codon for amino acid 824. 12% of the protein is disrupted. (J:90779, J:105231)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count