This is a spontaneous deletion of approximately 4500 bp including all of exon 8. In the resulting product, exon 7 is spliced to exon 9 and the coding sequence remains in frame. (J:105712)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count