A 10 bp deletion is found in exon 6 eliminating nucleotides 1346-1355 of the BC059851 coding sequence. This results in the deletion of 48% of the protein. (J:137716)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count